Canonical Allele Identifier: CA842881229

Gene: CACNA2D1

Linked Data

• dbSNP Id: rs1309808695
• gnomAD v3: 7-82156803-CCT-C
• gnomAD v4: 7-82156803-CCT-C
• MyVariant Identifiers: chr7:g.81786120_81786121del (hg19) ; chr7:g.82156804_82156805del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82156804_82156805del , CM000669.2:g.82156804_82156805del	GRCh38
NC_000007.13:g.81786120_81786121del , CM000669.1:g.81786120_81786121del	GRCh37
NC_000007.12:g.81624056_81624057del	NCBI36
NG_009358.2:g.291911_291912del , LRG_437:g.291911_291912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.354+13745_354+13746del	ENSP00000409374.2:n.354+13745_354+13746del
ENST00000705961.1:c.136+13745_136+13746del
ENST00000705962.1:c.270+13745_270+13746del	ENSP00000516190.1:n.270+13745_270+13746del
ENST00000356860.8:c.354+13745_354+13746del MANE Select	ENSP00000349320.3:n.354+13745_354+13746del
ENST00000356253.9:c.354+13745_354+13746del	ENSP00000348589.5:n.354+13745_354+13746del
ENST00000356860.7:c.354+13745_354+13746del	ENSP00000349320.3:n.354+13745_354+13746del
ENST00000423588.1:c.354+13745_354+13746del	ENSP00000405395.1:n.354+13745_354+13746del
ENST00000484706.1:n.360+13745_360+13746del
NM_000722.3:c.354+13745_354+13746del	NP_000713.2:n.354+13745_354+13746del
NM_001302890.1:c.354+13745_354+13746del	NP_001289819.1:n.354+13745_354+13746del
XM_005250570.1:c.354+13745_354+13746del	XP_005250627.1:n.354+13745_354+13746del
XM_005250572.1:c.354+13745_354+13746del	XP_005250629.1:n.354+13745_354+13746del
XM_005250573.1:c.354+13745_354+13746del	XP_005250630.1:n.354+13745_354+13746del
XM_005250574.1:c.354+13745_354+13746del	XP_005250631.1:n.354+13745_354+13746del
XM_006716118.1:c.354+13745_354+13746del	XP_006716181.1:n.354+13745_354+13746del
XM_006716119.2:c.279+13745_279+13746del	XP_006716182.1:n.279+13745_279+13746del
XM_006716120.2:c.237+13745_237+13746del	XP_006716183.1:n.237+13745_237+13746del
XM_011516570.1:c.354+13745_354+13746del	XP_011514872.1:n.354+13745_354+13746del
XM_011516571.1:c.354+13745_354+13746del	XP_011514873.1:n.354+13745_354+13746del
XM_011516572.1:c.354+13745_354+13746del	XP_011514874.1:n.354+13745_354+13746del
XM_011516573.1:c.123+13745_123+13746del	XP_011514875.1:n.123+13745_123+13746del
XM_011516574.1:c.354+13745_354+13746del	XP_011514876.1:n.354+13745_354+13746del
NM_001366867.1:c.354+13745_354+13746del	NP_001353796.1:n.354+13745_354+13746del
XM_005250572.3:c.354+13745_354+13746del	XP_005250629.1:n.354+13745_354+13746del
XM_005250573.3:c.354+13745_354+13746del	XP_005250630.1:n.354+13745_354+13746del
XM_005250574.3:c.354+13745_354+13746del	XP_005250631.1:n.354+13745_354+13746del
XM_006716118.3:c.354+13745_354+13746del	XP_006716181.1:n.354+13745_354+13746del
XM_006716119.3:c.279+13745_279+13746del	XP_006716182.1:n.279+13745_279+13746del
XM_006716120.3:c.237+13745_237+13746del	XP_006716183.1:n.237+13745_237+13746del
XM_011516570.3:c.354+13745_354+13746del	XP_011514872.1:n.354+13745_354+13746del
XM_011516571.3:c.354+13745_354+13746del	XP_011514873.1:n.354+13745_354+13746del
XM_011516572.3:c.354+13745_354+13746del	XP_011514874.1:n.354+13745_354+13746del
XM_017012588.1:c.237+13745_237+13746del	XP_016868077.1:n.237+13745_237+13746del
XR_001744873.2:n.374+13745_374+13746del
XR_001744874.2:n.374+13745_374+13746del
NM_000722.4:c.354+13745_354+13746del MANE Select	NP_000713.2:n.354+13745_354+13746del
NM_001302890.2:c.354+13745_354+13746del	NP_001289819.1:n.354+13745_354+13746del