Canonical Allele Identifier: CA954038802

Gene: SACS

Linked Data

• gnomAD v3: 13-23341813-G-GTTTTTTT
• gnomAD v4: 13-23341813-G-GTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341814_23341815insTTTTTTT , CM000675.2:g.23341814_23341815insTTTTTTT	GRCh38
NC_000013.10:g.23915953_23915954insTTTTTTT , CM000675.1:g.23915953_23915954insTTTTTTT	GRCh37
NC_000013.9:g.22813953_22813954insTTTTTTT	NCBI36
NG_012342.1:g.96889_96890insAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+11971_2185+11972insAAAAAAA	ENSP00000508399.1:n.2185+11971_2185+11972insAAAAAAA
ENST00000682944.1:c.2213-124_2213-123insAAAAAAA	ENSP00000507173.1:n.2213-124_2213-123insAAAAAAA
ENST00000683210.1:c.2185+11971_2185+11972insAAAAAAA	ENSP00000506739.1:n.2185+11971_2185+11972insAAAAAAA
ENST00000683270.1:c.2177-124_2177-123insAAAAAAA	ENSP00000507624.1:n.2177-124_2177-123insAAAAAAA
ENST00000683367.1:c.2176+11971_2176+11972insAAAAAAA	ENSP00000507780.1:n.2176+11971_2176+11972insAAAAAAA
ENST00000683489.1:c.2186-124_2186-123insAAAAAAA	ENSP00000508403.1:n.2186-124_2186-123insAAAAAAA
ENST00000683680.1:c.2213-124_2213-123insAAAAAAA	ENSP00000507223.1:n.2213-124_2213-123insAAAAAAA
ENST00000684163.1:c.2203+4997_2203+4998insAAAAAAA	ENSP00000508262.1:n.2203+4997_2203+4998insAAAAAAA
ENST00000684196.1:n.4542+11971_4542+11972insAAAAAAA
ENST00000684325.1:c.2185+11971_2185+11972insAAAAAAA	ENSP00000508121.1:n.2185+11971_2185+11972insAAAAAAA
ENST00000684385.1:c.2220+4997_2220+4998insAAAAAAA	ENSP00000507855.1:n.2220+4997_2220+4998insAAAAAAA
ENST00000684497.1:c.2185+11971_2185+11972insAAAAAAA	ENSP00000507057.1:n.2185+11971_2185+11972insAAAAAAA
ENST00000382292.9:c.2186-124_2186-123insAAAAAAA MANE Select	ENSP00000371729.3:n.2186-124_2186-123insAAAAAAA
ENST00000423156.2:c.2185+11971_2185+11972insAAAAAAA	ENSP00000390925.2:n.2185+11971_2185+11972insAAAAAAA
ENST00000455470.6:c.2186-124_2186-123insAAAAAAA	ENSP00000406565.2:n.2186-124_2186-123insAAAAAAA
ENST00000382292.7:c.2186-124_2186-123insAAAAAAA	ENSP00000371729.3:n.2186-124_2186-123insAAAAAAA
ENST00000382298.7:c.2186-124_2186-123insAAAAAAA	ENSP00000371735.3:n.2186-124_2186-123insAAAAAAA
ENST00000402364.1:c.-65-124_-65-123insAAAAAAA	ENSP00000385844.1:n.-65-124_-65-123insAAAAAAA
ENST00000423156.1:c.1057+11971_1057+11972insAAAAAAA	ENSP00000390925.1:n.1057+11971_1057+11972insAAAAAAA
ENST00000455470.5:c.1884-124_1884-123insAAAAAAA
NM_001278055.1:c.1745-124_1745-123insAAAAAAA	NP_001264984.1:n.1745-124_1745-123insAAAAAAA
NM_014363.5:c.2186-124_2186-123insAAAAAAA	NP_055178.3:n.2186-124_2186-123insAAAAAAA
XM_005266338.1:c.2213-124_2213-123insAAAAAAA	XP_005266395.1:n.2213-124_2213-123insAAAAAAA
XM_011535038.1:c.2237-124_2237-123insAAAAAAA	XP_011533340.1:n.2237-124_2237-123insAAAAAAA
XM_011535039.1:c.2204-124_2204-123insAAAAAAA	XP_011533341.1:n.2204-124_2204-123insAAAAAAA
XM_005266338.2:c.2213-124_2213-123insAAAAAAA	XP_005266395.1:n.2213-124_2213-123insAAAAAAA
XM_011535039.2:c.2204-124_2204-123insAAAAAAA	XP_011533341.1:n.2204-124_2204-123insAAAAAAA
XM_017020539.1:c.2177-124_2177-123insAAAAAAA	XP_016876028.1:n.2177-124_2177-123insAAAAAAA
XM_024449337.1:c.2213-124_2213-123insAAAAAAA	XP_024305105.1:n.2213-124_2213-123insAAAAAAA
NM_014363.6:c.2186-124_2186-123insAAAAAAA MANE Select	NP_055178.3:n.2186-124_2186-123insAAAAAAA
NM_001278055.2:c.1745-124_1745-123insAAAAAAA	NP_001264984.1:n.1745-124_1745-123insAAAAAAA