Canonical Allele Identifier: CA2622329151

Gene: SACS

Linked Data

• gnomAD v4: 13-23341775-A-ACT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341775_23341776insCT , CM000675.2:g.23341775_23341776insCT	GRCh38
NC_000013.10:g.23915914_23915915insCT , CM000675.1:g.23915914_23915915insCT	GRCh37
NC_000013.9:g.22813914_22813915insCT	NCBI36
NG_012342.1:g.96927_96928insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12009_2185+12010insAG	ENSP00000508399.1:n.2185+12009_2185+12010insAG
ENST00000682944.1:c.2213-86_2213-85insAG	ENSP00000507173.1:n.2213-86_2213-85insAG
ENST00000683210.1:c.2185+12009_2185+12010insAG	ENSP00000506739.1:n.2185+12009_2185+12010insAG
ENST00000683270.1:c.2177-86_2177-85insAG	ENSP00000507624.1:n.2177-86_2177-85insAG
ENST00000683367.1:c.2176+12009_2176+12010insAG	ENSP00000507780.1:n.2176+12009_2176+12010insAG
ENST00000683489.1:c.2186-86_2186-85insAG	ENSP00000508403.1:n.2186-86_2186-85insAG
ENST00000683680.1:c.2213-86_2213-85insAG	ENSP00000507223.1:n.2213-86_2213-85insAG
ENST00000684163.1:c.2203+5035_2203+5036insAG	ENSP00000508262.1:n.2203+5035_2203+5036insAG
ENST00000684196.1:n.4542+12009_4542+12010insAG
ENST00000684325.1:c.2185+12009_2185+12010insAG	ENSP00000508121.1:n.2185+12009_2185+12010insAG
ENST00000684385.1:c.2220+5035_2220+5036insAG	ENSP00000507855.1:n.2220+5035_2220+5036insAG
ENST00000684497.1:c.2185+12009_2185+12010insAG	ENSP00000507057.1:n.2185+12009_2185+12010insAG
ENST00000382292.9:c.2186-86_2186-85insAG MANE Select	ENSP00000371729.3:n.2186-86_2186-85insAG
ENST00000423156.2:c.2185+12009_2185+12010insAG	ENSP00000390925.2:n.2185+12009_2185+12010insAG
ENST00000455470.6:c.2186-86_2186-85insAG	ENSP00000406565.2:n.2186-86_2186-85insAG
ENST00000382292.7:c.2186-86_2186-85insAG	ENSP00000371729.3:n.2186-86_2186-85insAG
ENST00000382298.7:c.2186-86_2186-85insAG	ENSP00000371735.3:n.2186-86_2186-85insAG
ENST00000402364.1:c.-65-86_-65-85insAG	ENSP00000385844.1:n.-65-86_-65-85insAG
ENST00000423156.1:c.1057+12009_1057+12010insAG	ENSP00000390925.1:n.1057+12009_1057+12010insAG
ENST00000455470.5:c.1884-86_1884-85insAG
NM_001278055.1:c.1745-86_1745-85insAG	NP_001264984.1:n.1745-86_1745-85insAG
NM_014363.5:c.2186-86_2186-85insAG	NP_055178.3:n.2186-86_2186-85insAG
XM_005266338.1:c.2213-86_2213-85insAG	XP_005266395.1:n.2213-86_2213-85insAG
XM_011535038.1:c.2237-86_2237-85insAG	XP_011533340.1:n.2237-86_2237-85insAG
XM_011535039.1:c.2204-86_2204-85insAG	XP_011533341.1:n.2204-86_2204-85insAG
XM_005266338.2:c.2213-86_2213-85insAG	XP_005266395.1:n.2213-86_2213-85insAG
XM_011535039.2:c.2204-86_2204-85insAG	XP_011533341.1:n.2204-86_2204-85insAG
XM_017020539.1:c.2177-86_2177-85insAG	XP_016876028.1:n.2177-86_2177-85insAG
XM_024449337.1:c.2213-86_2213-85insAG	XP_024305105.1:n.2213-86_2213-85insAG
NM_014363.6:c.2186-86_2186-85insAG MANE Select	NP_055178.3:n.2186-86_2186-85insAG
NM_001278055.2:c.1745-86_1745-85insAG	NP_001264984.1:n.1745-86_1745-85insAG