Canonical Allele Identifier: CA954038712

Gene: SACS

Linked Data

• gnomAD v3: 13-23341806-TGAC-T
• gnomAD v4: 13-23341806-TGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341808_23341810del , CM000675.2:g.23341808_23341810del	GRCh38
NC_000013.10:g.23915947_23915949del , CM000675.1:g.23915947_23915949del	GRCh37
NC_000013.9:g.22813947_22813949del	NCBI36
NG_012342.1:g.96894_96896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+11976_2185+11978del	ENSP00000508399.1:n.2185+11976_2185+11978del
ENST00000682944.1:c.2213-119_2213-117del	ENSP00000507173.1:n.2213-119_2213-117del
ENST00000683210.1:c.2185+11976_2185+11978del	ENSP00000506739.1:n.2185+11976_2185+11978del
ENST00000683270.1:c.2177-119_2177-117del	ENSP00000507624.1:n.2177-119_2177-117del
ENST00000683367.1:c.2176+11976_2176+11978del	ENSP00000507780.1:n.2176+11976_2176+11978del
ENST00000683489.1:c.2186-119_2186-117del	ENSP00000508403.1:n.2186-119_2186-117del
ENST00000683680.1:c.2213-119_2213-117del	ENSP00000507223.1:n.2213-119_2213-117del
ENST00000684163.1:c.2203+5002_2203+5004del	ENSP00000508262.1:n.2203+5002_2203+5004del
ENST00000684196.1:n.4542+11976_4542+11978del
ENST00000684325.1:c.2185+11976_2185+11978del	ENSP00000508121.1:n.2185+11976_2185+11978del
ENST00000684385.1:c.2220+5002_2220+5004del	ENSP00000507855.1:n.2220+5002_2220+5004del
ENST00000684497.1:c.2185+11976_2185+11978del	ENSP00000507057.1:n.2185+11976_2185+11978del
ENST00000382292.9:c.2186-119_2186-117del MANE Select	ENSP00000371729.3:n.2186-119_2186-117del
ENST00000423156.2:c.2185+11976_2185+11978del	ENSP00000390925.2:n.2185+11976_2185+11978del
ENST00000455470.6:c.2186-119_2186-117del	ENSP00000406565.2:n.2186-119_2186-117del
ENST00000382292.7:c.2186-119_2186-117del	ENSP00000371729.3:n.2186-119_2186-117del
ENST00000382298.7:c.2186-119_2186-117del	ENSP00000371735.3:n.2186-119_2186-117del
ENST00000402364.1:c.-65-119_-65-117del	ENSP00000385844.1:n.-65-119_-65-117del
ENST00000423156.1:c.1057+11976_1057+11978del	ENSP00000390925.1:n.1057+11976_1057+11978del
ENST00000455470.5:c.1884-119_1884-117del
NM_001278055.1:c.1745-119_1745-117del	NP_001264984.1:n.1745-119_1745-117del
NM_014363.5:c.2186-119_2186-117del	NP_055178.3:n.2186-119_2186-117del
XM_005266338.1:c.2213-119_2213-117del	XP_005266395.1:n.2213-119_2213-117del
XM_011535038.1:c.2237-119_2237-117del	XP_011533340.1:n.2237-119_2237-117del
XM_011535039.1:c.2204-119_2204-117del	XP_011533341.1:n.2204-119_2204-117del
XM_005266338.2:c.2213-119_2213-117del	XP_005266395.1:n.2213-119_2213-117del
XM_011535039.2:c.2204-119_2204-117del	XP_011533341.1:n.2204-119_2204-117del
XM_017020539.1:c.2177-119_2177-117del	XP_016876028.1:n.2177-119_2177-117del
XM_024449337.1:c.2213-119_2213-117del	XP_024305105.1:n.2213-119_2213-117del
NM_014363.6:c.2186-119_2186-117del MANE Select	NP_055178.3:n.2186-119_2186-117del
NM_001278055.2:c.1745-119_1745-117del	NP_001264984.1:n.1745-119_1745-117del