Canonical Allele Identifier: CA301680

Gene: CACNA1C CACNA1C-AS1

Linked Data

• ClinVar Variation Id: 190693
• ClinVar RCV Id: RCV000170832
• dbSNP Id: rs786205772
• MyVariant Identifiers: chr12:g.2786341_2786343del (hg19) ; chr12:g.2677175_2677177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.2677175_2677177del , CM000674.2:g.2677175_2677177del	GRCh38
NC_000012.11:g.2786341_2786343del , CM000674.1:g.2786341_2786343del	GRCh37
NC_000012.10:g.2656602_2656604del	NCBI36
NG_008801.2:g.711390_711392del , LRG_334:g.711390_711392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335762.10:c.4985_4987del (CACNA1C)	ENSP00000336982.5:p.Gln1662_Gly1663delinsArg
ENST00000399617.6:c.4910_4912del (CACNA1C)	ENSP00000382526.1:p.Gln1637_Gly1638delinsArg
ENST00000399634.6:c.4877_4879del (CACNA1C)	ENSP00000382542.2:p.Gln1626_Gly1627delinsArg
ENST00000406454.8:c.4910_4912del (CACNA1C)	ENSP00000385896.3:p.Gln1637_Gly1638delinsArg
ENST00000682320.1:n.1052_1054del (CACNA1C)
ENST00000682336.1:c.4952_4954del (CACNA1C)	ENSP00000507898.1:p.Gln1651_Gly1652delinsArg
ENST00000682462.1:c.5000_5002del (CACNA1C)	ENSP00000507105.1:p.Gln1667_Gly1668delinsArg
ENST00000682544.1:c.5144_5146del (CACNA1C)	ENSP00000507184.1:p.Gln1715_Gly1716delinsArg
ENST00000682686.1:c.4877_4879del (CACNA1C)	ENSP00000507309.1:p.Gln1626_Gly1627delinsArg
ENST00000682835.1:c.4910_4912del (CACNA1C)	ENSP00000507282.1:p.Gln1637_Gly1638delinsArg
ENST00000683482.1:c.4901_4903del (CACNA1C)	ENSP00000507169.1:p.Gln1634_Gly1635delinsArg
ENST00000683781.1:c.5000_5002del (CACNA1C)	ENSP00000507434.1:p.Gln1667_Gly1668delinsArg
ENST00000683824.1:c.5075_5077del (CACNA1C)	ENSP00000507867.1:p.Gln1692_Gly1693delinsArg
ENST00000683840.1:c.5000_5002del (CACNA1C)	ENSP00000507612.1:p.Gln1667_Gly1668delinsArg
ENST00000683956.1:c.5000_5002del (CACNA1C)	ENSP00000506882.1:p.Gln1667_Gly1668delinsArg
ENST00000684467.1:n.1413_1415del (CACNA1C)
ENST00000684752.1:n.40_42del (CACNA1C)
ENST00000327702.12:c.4910_4912del (CACNA1C)	ENSP00000329877.7:p.Gln1637_Gly1638delinsArg
ENST00000347598.9:c.5054_5056del (CACNA1C)	ENSP00000266376.6:p.Gln1685_Gly1686delinsArg
ENST00000399603.6:c.4910_4912del (CACNA1C) MANE Plus Clinical	ENSP00000382512.1:p.Gln1637_Gly1638delinsArg
ENST00000399641.6:c.4910_4912del (CACNA1C)	ENSP00000382549.1:p.Gln1637_Gly1638delinsArg
ENST00000399655.6:c.4910_4912del (CACNA1C) MANE Select	ENSP00000382563.1:p.Gln1637_Gly1638delinsArg
ENST00000327702.11:c.4910_4912del (CACNA1C)	ENSP00000329877.7:p.Gln1637_Gly1638delinsArg
ENST00000335762.9:c.4985_4987del (CACNA1C)	ENSP00000336982.5:p.Gln1662_Gly1663delinsArg
ENST00000344100.7:c.5033_5035del (CACNA1C)	ENSP00000341092.3:p.Gln1678_Gly1679delinsArg
ENST00000347598.8:c.5054_5056del (CACNA1C)	ENSP00000266376.6:p.Gln1685_Gly1686delinsArg
ENST00000399591.5:c.4934_4936del (CACNA1C)	ENSP00000382500.1:p.Gln1645_Gly1646delinsArg
ENST00000399595.5:c.4934_4936del (CACNA1C)	ENSP00000382504.1:p.Gln1645_Gly1646delinsArg
ENST00000399597.5:c.4910_4912del (CACNA1C)	ENSP00000382506.1:p.Gln1637_Gly1638delinsArg
ENST00000399601.5:c.4910_4912del (CACNA1C)	ENSP00000382510.1:p.Gln1637_Gly1638delinsArg
ENST00000399603.5:c.4910_4912del (CACNA1C)	ENSP00000382512.1:p.Gln1637_Gly1638delinsArg
ENST00000399606.5:c.4970_4972del (CACNA1C)	ENSP00000382515.1:p.Gln1657_Gly1658delinsArg
ENST00000399617.5:c.4910_4912del (CACNA1C)	ENSP00000382526.1:p.Gln1637_Gly1638delinsArg
ENST00000399621.5:c.4967_4969del (CACNA1C)	ENSP00000382530.1:p.Gln1656_Gly1657delinsArg
ENST00000399629.5:c.4961_4963del (CACNA1C)	ENSP00000382537.1:p.Gln1654_Gly1655delinsArg
ENST00000399634.5:c.4910_4912del (CACNA1C)	ENSP00000382542.1:p.Gln1637_Gly1638delinsArg
ENST00000399637.5:c.4967_4969del (CACNA1C)	ENSP00000382546.1:p.Gln1656_Gly1657delinsArg
ENST00000399638.5:c.4994_4996del (CACNA1C)	ENSP00000382547.1:p.Gln1665_Gly1666delinsArg
ENST00000399641.5:c.4910_4912del (CACNA1C)	ENSP00000382549.1:p.Gln1637_Gly1638delinsArg
ENST00000399644.5:c.4910_4912del (CACNA1C)	ENSP00000382552.1:p.Gln1637_Gly1638delinsArg
ENST00000399649.5:c.4928_4930del (CACNA1C)	ENSP00000382557.1:p.Gln1643_Gly1644delinsArg
ENST00000399655.5:c.4910_4912del (CACNA1C)	ENSP00000382563.1:p.Gln1637_Gly1638delinsArg
ENST00000402845.7:c.4967_4969del (CACNA1C)	ENSP00000385724.3:p.Gln1656_Gly1657delinsArg
ENST00000406454.7:c.4910_4912del (CACNA1C)	ENSP00000385896.3:p.Gln1637_Gly1638delinsArg
ENST00000465934.1:n.454_456del (CACNA1C)
ENST00000613940.4:c.4433_4435del (CACNA1C)	ENSP00000483335.1:p.Gln1478_Gly1479delinsArg
ENST00000615303.4:c.4577_4579del (CACNA1C)	ENSP00000480922.1:p.Gln1526_Gly1527delinsArg
ENST00000615400.4:c.4577_4579del (CACNA1C)	ENSP00000480292.1:p.Gln1526_Gly1527delinsArg
ENST00000616390.1:c.983_985del (CACNA1C)	ENSP00000482910.1:p.Gln328_Gly329delinsArg
ENST00000620878.4:c.4400_4402del (CACNA1C)	ENSP00000479029.1:p.Gln1467_Gly1468delinsArg
ENST00000621625.4:c.4433_4435del (CACNA1C)	ENSP00000484796.1:p.Gln1478_Gly1479delinsArg
NM_000719.6:c.4910_4912del , LRG_334t1:c.4910_4912del (CACNA1C)	NP_000710.5:p.Gln1637_Gly1638delinsArg
NM_001129827.1:c.5054_5056del , LRG_334t2:c.5054_5056del (CACNA1C)	NP_001123299.1:p.Gln1685_Gly1686delinsArg
NM_001129829.1:c.5033_5035del (CACNA1C)	NP_001123301.1:p.Gln1678_Gly1679delinsArg
NM_001129830.2:c.4910_4912del (CACNA1C)	NP_001123302.2:p.Gln1637_Gly1638delinsArg
NM_001129831.1:c.4994_4996del (CACNA1C)	NP_001123303.1:p.Gln1665_Gly1666delinsArg
NM_001129832.1:c.4970_4972del (CACNA1C)	NP_001123304.1:p.Gln1657_Gly1658delinsArg
NM_001129833.1:c.4967_4969del (CACNA1C)	NP_001123305.1:p.Gln1656_Gly1657delinsArg
NM_001129834.1:c.4967_4969del (CACNA1C)	NP_001123306.1:p.Gln1656_Gly1657delinsArg
NM_001129835.1:c.4967_4969del (CACNA1C)	NP_001123307.1:p.Gln1656_Gly1657delinsArg
NM_001129836.1:c.4961_4963del (CACNA1C)	NP_001123308.1:p.Gln1654_Gly1655delinsArg
NM_001129837.1:c.4934_4936del (CACNA1C)	NP_001123309.1:p.Gln1645_Gly1646delinsArg
NM_001129838.1:c.4934_4936del (CACNA1C)	NP_001123310.1:p.Gln1645_Gly1646delinsArg
NM_001129839.1:c.4928_4930del (CACNA1C)	NP_001123311.1:p.Gln1643_Gly1644delinsArg
NM_001129840.1:c.4910_4912del , LRG_334t4:c.4910_4912del (CACNA1C)	NP_001123312.1:p.Gln1637_Gly1638delinsArg
NM_001129841.1:c.4910_4912del (CACNA1C)	NP_001123313.1:p.Gln1637_Gly1638delinsArg
NM_001129842.1:c.4910_4912del (CACNA1C)	NP_001123314.1:p.Gln1637_Gly1638delinsArg
NM_001129843.1:c.4910_4912del (CACNA1C)	NP_001123315.1:p.Gln1637_Gly1638delinsArg
NM_001129844.1:c.4901_4903del (CACNA1C)	NP_001123316.1:p.Gln1634_Gly1635delinsArg
NM_001129846.1:c.4877_4879del (CACNA1C)	NP_001123318.1:p.Gln1626_Gly1627delinsArg
NM_001167623.1:c.4910_4912del (CACNA1C)	NP_001161095.1:p.Gln1637_Gly1638delinsArg
NM_001167624.2:c.4910_4912del (CACNA1C)	NP_001161096.2:p.Gln1637_Gly1638delinsArg
NM_001167625.1:c.4877_4879del (CACNA1C)	NP_001161097.1:p.Gln1626_Gly1627delinsArg
NM_199460.3:c.5054_5056del (CACNA1C)	NP_955630.3:p.Gln1685_Gly1686delinsArg
NR_045725.1:n.1054_1056del (CACNA1C-AS1)
XM_006719017.1:c.5000_5002del (CACNA1C)	XP_006719080.1:p.Gln1667_Gly1668delinsArg
XM_011521017.1:c.4211_4213del (CACNA1C)	XP_011519319.1:p.Gln1404_Gly1405delinsArg
XM_011521018.1:c.3656_3658del (CACNA1C)	XP_011519320.1:p.Gln1219_Gly1220delinsArg
XM_011521019.1:c.1766_1768del (CACNA1C)	XP_011519321.1:p.Gln589_Gly590delinsArg
XM_011521020.1:c.5075_5077del (CACNA1C)	XP_011519322.1:p.Gln1692_Gly1693delinsArg
XM_011521021.1:c.4910_4912del (CACNA1C)	XP_011519323.1:p.Gln1637_Gly1638delinsArg
XM_011521022.1:c.4910_4912del (CACNA1C)	XP_011519324.1:p.Gln1637_Gly1638delinsArg
XM_011521023.1:c.4985_4987del (CACNA1C)	XP_011519325.1:p.Gln1662_Gly1663delinsArg
XM_006719017.2:c.5000_5002del (CACNA1C)	XP_006719080.1:p.Gln1667_Gly1668delinsArg
XM_011521020.2:c.5075_5077del (CACNA1C)	XP_011519322.1:p.Gln1692_Gly1693delinsArg
XM_011521023.3:c.4985_4987del (CACNA1C)	XP_011519325.1:p.Gln1662_Gly1663delinsArg
XM_017019926.2:c.5414_5416del (CACNA1C)	XP_016875415.1:p.Gln1805_Gly1806delinsArg
XM_017019927.2:c.5414_5416del (CACNA1C)	XP_016875416.1:p.Gln1805_Gly1806delinsArg
XM_017019928.2:c.5414_5416del (CACNA1C)	XP_016875417.1:p.Gln1805_Gly1806delinsArg
XM_017019929.2:c.5357_5359del (CACNA1C)	XP_016875418.1:p.Gln1786_Gly1787delinsArg
XM_017019930.2:c.5357_5359del (CACNA1C)	XP_016875419.1:p.Gln1786_Gly1787delinsArg
XM_017019931.2:c.5273_5275del (CACNA1C)	XP_016875420.1:p.Gln1758_Gly1759delinsArg
XM_017019932.2:c.5045_5047del (CACNA1C)	XP_016875421.1:p.Gln1682_Gly1683delinsArg
XM_017019933.2:c.5162_5164del (CACNA1C)	XP_016875422.1:p.Gln1721_Gly1722delinsArg
XM_017019934.2:c.5153_5155del (CACNA1C)	XP_016875423.1:p.Gln1718_Gly1719delinsArg
XM_017019935.2:c.5153_5155del (CACNA1C)	XP_016875424.1:p.Gln1718_Gly1719delinsArg
XM_017019936.2:c.5135_5137del (CACNA1C)	XP_016875425.1:p.Gln1712_Gly1713delinsArg
XM_017019937.2:c.5135_5137del (CACNA1C)	XP_016875426.1:p.Gln1712_Gly1713delinsArg
XM_017019938.2:c.5135_5137del (CACNA1C)	XP_016875427.1:p.Gln1712_Gly1713delinsArg
XM_017019939.2:c.5129_5131del (CACNA1C)	XP_016875428.1:p.Gln1710_Gly1711delinsArg
XM_017019940.2:c.5102_5104del (CACNA1C)	XP_016875429.1:p.Gln1701_Gly1702delinsArg
XM_017019941.2:c.5096_5098del (CACNA1C)	XP_016875430.1:p.Gln1699_Gly1700delinsArg
XM_017019942.2:c.5078_5080del (CACNA1C)	XP_016875431.1:p.Gln1693_Gly1694delinsArg
XM_017019943.2:c.5078_5080del (CACNA1C)	XP_016875432.1:p.Gln1693_Gly1694delinsArg
XM_017019944.2:c.5078_5080del (CACNA1C)	XP_016875433.1:p.Gln1693_Gly1694delinsArg
XM_017019945.2:c.5078_5080del (CACNA1C)	XP_016875434.1:p.Gln1693_Gly1694delinsArg
XM_017019946.2:c.5078_5080del (CACNA1C)	XP_016875435.1:p.Gln1693_Gly1694delinsArg
XM_017019947.2:c.5078_5080del (CACNA1C)	XP_016875436.1:p.Gln1693_Gly1694delinsArg
XM_017019948.2:c.5078_5080del (CACNA1C)	XP_016875437.1:p.Gln1693_Gly1694delinsArg
XM_017019949.2:c.5078_5080del (CACNA1C)	XP_016875438.1:p.Gln1693_Gly1694delinsArg
XM_017019950.2:c.5072_5074del (CACNA1C)	XP_016875439.1:p.Gln1691_Gly1692delinsArg
XM_017019951.2:c.5069_5071del (CACNA1C)	XP_016875440.1:p.Gln1690_Gly1691delinsArg
XM_017019952.2:c.5045_5047del (CACNA1C)	XP_016875441.1:p.Gln1682_Gly1683delinsArg
XM_017019953.1:c.5000_5002del (CACNA1C)	XP_016875442.1:p.Gln1667_Gly1668delinsArg
XM_017019954.1:c.5000_5002del (CACNA1C)	XP_016875443.1:p.Gln1667_Gly1668delinsArg
XM_017019955.2:c.5153_5155del (CACNA1C)	XP_016875444.1:p.Gln1718_Gly1719delinsArg
NM_000719.7:c.4910_4912del (CACNA1C) MANE Select	NP_000710.5:p.Gln1637_Gly1638delinsArg
NM_001129827.2:c.5054_5056del (CACNA1C)	NP_001123299.1:p.Gln1685_Gly1686delinsArg
NM_001129830.3:c.4910_4912del (CACNA1C)	NP_001123302.2:p.Gln1637_Gly1638delinsArg
NM_001129840.2:c.4910_4912del (CACNA1C)	NP_001123312.1:p.Gln1637_Gly1638delinsArg
NM_001167623.2:c.4910_4912del (CACNA1C) MANE Plus Clinical	NP_001161095.1:p.Gln1637_Gly1638delinsArg
NM_001129829.2:c.5033_5035del (CACNA1C)	NP_001123301.1:p.Gln1678_Gly1679delinsArg
NM_001129831.2:c.4994_4996del (CACNA1C)	NP_001123303.1:p.Gln1665_Gly1666delinsArg
NM_001129832.2:c.4970_4972del (CACNA1C)	NP_001123304.1:p.Gln1657_Gly1658delinsArg
NM_001129833.2:c.4967_4969del (CACNA1C)	NP_001123305.1:p.Gln1656_Gly1657delinsArg
NM_001129834.2:c.4967_4969del (CACNA1C)	NP_001123306.1:p.Gln1656_Gly1657delinsArg
NM_001129835.2:c.4967_4969del (CACNA1C)	NP_001123307.1:p.Gln1656_Gly1657delinsArg
NM_001129836.2:c.4961_4963del (CACNA1C)	NP_001123308.1:p.Gln1654_Gly1655delinsArg
NM_001129837.2:c.4934_4936del (CACNA1C)	NP_001123309.1:p.Gln1645_Gly1646delinsArg
NM_001129838.2:c.4934_4936del (CACNA1C)	NP_001123310.1:p.Gln1645_Gly1646delinsArg
NM_001129839.2:c.4928_4930del (CACNA1C)	NP_001123311.1:p.Gln1643_Gly1644delinsArg
NM_001129841.2:c.4910_4912del (CACNA1C)	NP_001123313.1:p.Gln1637_Gly1638delinsArg
NM_001129842.2:c.4910_4912del (CACNA1C)	NP_001123314.1:p.Gln1637_Gly1638delinsArg
NM_001129843.2:c.4910_4912del (CACNA1C)	NP_001123315.1:p.Gln1637_Gly1638delinsArg
NM_001129844.2:c.4901_4903del (CACNA1C)	NP_001123316.1:p.Gln1634_Gly1635delinsArg
NM_001129846.2:c.4877_4879del (CACNA1C)	NP_001123318.1:p.Gln1626_Gly1627delinsArg
NM_001167624.3:c.4910_4912del (CACNA1C)	NP_001161096.2:p.Gln1637_Gly1638delinsArg
NM_001167625.2:c.4877_4879del (CACNA1C)	NP_001161097.1:p.Gln1626_Gly1627delinsArg
NM_199460.4:c.5054_5056del (CACNA1C)	NP_955630.3:p.Gln1685_Gly1686delinsArg