Canonical Allele Identifier: CA530248396

Gene: SDCCAG8

Linked Data

• gnomAD v2: 1-243589899-G-GTTATTATAT
• MyVariant Identifiers: chr1:g.243589899_243589900insTTATTATAT (hg19) ; chr1:g.243426597_243426598insTTATTATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426597_243426598insTTATTATAT , CM000663.2:g.243426597_243426598insTTATTATAT	GRCh38
NC_000001.10:g.243589899_243589900insTTATTATAT , CM000663.1:g.243589899_243589900insTTATTATAT	GRCh37
NC_000001.9:g.241656522_241656523insTTATTATAT	NCBI36
NG_027811.1:g.175593_175594insTTATTATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1985+39_1985+40insTTATTATAT MANE Select	ENSP00000355499.3:n.1985+39_1985+40insTTATTATAT
ENST00000366541.7:c.1985+39_1985+40insTTATTATAT	ENSP00000355499.3:n.1985+39_1985+40insTTATTATAT
ENST00000435549.1:c.1088+39_1088+40insTTATTATAT	ENSP00000410200.1:n.1088+39_1088+40insTTATTATAT
ENST00000463042.1:n.192+39_192+40insTTATTATAT
NM_006642.3:c.1985+39_1985+40insTTATTATAT	NP_006633.1:n.1985+39_1985+40insTTATTATAT
XM_005273013.3:c.1856+39_1856+40insTTATTATAT	XP_005273070.1:n.1856+39_1856+40insTTATTATAT
XM_005273018.1:c.1562+39_1562+40insTTATTATAT	XP_005273075.1:n.1562+39_1562+40insTTATTATAT
XM_005273021.3:c.1082+39_1082+40insTTATTATAT	XP_005273078.1:n.1082+39_1082+40insTTATTATAT
XM_005273022.2:c.1064+39_1064+40insTTATTATAT	XP_005273079.1:n.1064+39_1064+40insTTATTATAT
XM_006711727.2:c.2015+39_2015+40insTTATTATAT	XP_006711790.1:n.2015+39_2015+40insTTATTATAT
XM_006711728.2:c.1886+39_1886+40insTTATTATAT	XP_006711791.1:n.1886+39_1886+40insTTATTATAT
XM_006711729.2:c.1826+39_1826+40insTTATTATAT	XP_006711792.1:n.1826+39_1826+40insTTATTATAT
XM_011544021.1:c.2111+39_2111+40insTTATTATAT	XP_011542323.1:n.2111+39_2111+40insTTATTATAT
XM_011544022.1:c.2081+39_2081+40insTTATTATAT	XP_011542324.1:n.2081+39_2081+40insTTATTATAT
XM_011544023.1:c.2111+39_2111+40insTTATTATAT	XP_011542325.1:n.2111+39_2111+40insTTATTATAT
XM_011544024.1:c.2111+39_2111+40insTTATTATAT	XP_011542326.1:n.2111+39_2111+40insTTATTATAT
XM_011544025.1:c.1922+39_1922+40insTTATTATAT	XP_011542327.1:n.1922+39_1922+40insTTATTATAT
XM_011544026.1:c.1874+39_1874+40insTTATTATAT	XP_011542328.1:n.1874+39_1874+40insTTATTATAT
XM_011544027.1:c.1697+39_1697+40insTTATTATAT	XP_011542329.1:n.1697+39_1697+40insTTATTATAT
XM_011544028.1:c.1649+39_1649+40insTTATTATAT	XP_011542330.1:n.1649+39_1649+40insTTATTATAT
XM_011544030.1:c.1040+39_1040+40insTTATTATAT	XP_011542332.1:n.1040+39_1040+40insTTATTATAT
XR_949128.1:n.2135+39_2135+40insTTATTATAT
NM_001350246.1:c.1082+39_1082+40insTTATTATAT	NP_001337175.1:n.1082+39_1082+40insTTATTATAT
NM_001350247.1:c.1082+39_1082+40insTTATTATAT	NP_001337176.1:n.1082+39_1082+40insTTATTATAT
NM_001350248.1:c.2081+39_2081+40insTTATTATAT	NP_001337177.1:n.2081+39_2081+40insTTATTATAT
NM_001350249.1:c.1691+39_1691+40insTTATTATAT	NP_001337178.1:n.1691+39_1691+40insTTATTATAT
NM_001350251.1:c.1082+39_1082+40insTTATTATAT	NP_001337180.1:n.1082+39_1082+40insTTATTATAT
NM_006642.4:c.1985+39_1985+40insTTATTATAT	NP_006633.1:n.1985+39_1985+40insTTATTATAT
XM_005273013.5:c.1856+39_1856+40insTTATTATAT	XP_005273070.1:n.1856+39_1856+40insTTATTATAT
XM_005273018.2:c.1562+39_1562+40insTTATTATAT	XP_005273075.1:n.1562+39_1562+40insTTATTATAT
XM_005273022.4:c.1064+39_1064+40insTTATTATAT	XP_005273079.1:n.1064+39_1064+40insTTATTATAT
XM_011544026.3:c.1874+39_1874+40insTTATTATAT	XP_011542328.1:n.1874+39_1874+40insTTATTATAT
XM_011544028.3:c.1649+39_1649+40insTTATTATAT	XP_011542330.1:n.1649+39_1649+40insTTATTATAT
XM_011544030.3:c.1040+39_1040+40insTTATTATAT	XP_011542332.1:n.1040+39_1040+40insTTATTATAT
XM_017000104.2:c.1856+39_1856+40insTTATTATAT	XP_016855593.1:n.1856+39_1856+40insTTATTATAT
XM_017000105.2:c.1748+39_1748+40insTTATTATAT	XP_016855594.1:n.1748+39_1748+40insTTATTATAT
XM_024452537.1:c.1787+39_1787+40insTTATTATAT	XP_024308305.1:n.1787+39_1787+40insTTATTATAT
XM_024452539.1:c.1787+39_1787+40insTTATTATAT	XP_024308307.1:n.1787+39_1787+40insTTATTATAT
XM_024452540.1:c.1787+39_1787+40insTTATTATAT	XP_024308308.1:n.1787+39_1787+40insTTATTATAT
XM_024452547.1:c.1691+39_1691+40insTTATTATAT	XP_024308315.1:n.1691+39_1691+40insTTATTATAT
XM_024452548.1:c.1787+39_1787+40insTTATTATAT	XP_024308316.1:n.1787+39_1787+40insTTATTATAT
XM_024452549.1:c.1454+39_1454+40insTTATTATAT	XP_024308317.1:n.1454+39_1454+40insTTATTATAT
XR_002958955.1:n.2027+39_2027+40insTTATTATAT
XR_002958956.1:n.2027+39_2027+40insTTATTATAT
XR_002958965.1:n.1918+39_1918+40insTTATTATAT
NM_006642.5:c.1985+39_1985+40insTTATTATAT MANE Select	NP_006633.1:n.1985+39_1985+40insTTATTATAT
NM_001350246.2:c.1082+39_1082+40insTTATTATAT	NP_001337175.1:n.1082+39_1082+40insTTATTATAT
NM_001350247.2:c.1082+39_1082+40insTTATTATAT	NP_001337176.1:n.1082+39_1082+40insTTATTATAT
NM_001350248.2:c.2081+39_2081+40insTTATTATAT	NP_001337177.1:n.2081+39_2081+40insTTATTATAT
NM_001350249.2:c.1691+39_1691+40insTTATTATAT	NP_001337178.1:n.1691+39_1691+40insTTATTATAT
NM_001350251.2:c.1082+39_1082+40insTTATTATAT	NP_001337180.1:n.1082+39_1082+40insTTATTATAT