Canonical Allele Identifier: CA2622329160

Gene: SACS

Linked Data

• gnomAD v4: 13-23341776-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341776_23341777insTTT , CM000675.2:g.23341776_23341777insTTT	GRCh38
NC_000013.10:g.23915915_23915916insTTT , CM000675.1:g.23915915_23915916insTTT	GRCh37
NC_000013.9:g.22813915_22813916insTTT	NCBI36
NG_012342.1:g.96926_96927insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12008_2185+12009insAAA	ENSP00000508399.1:n.2185+12008_2185+12009insAAA
ENST00000682944.1:c.2213-87_2213-86insAAA	ENSP00000507173.1:n.2213-87_2213-86insAAA
ENST00000683210.1:c.2185+12008_2185+12009insAAA	ENSP00000506739.1:n.2185+12008_2185+12009insAAA
ENST00000683270.1:c.2177-87_2177-86insAAA	ENSP00000507624.1:n.2177-87_2177-86insAAA
ENST00000683367.1:c.2176+12008_2176+12009insAAA	ENSP00000507780.1:n.2176+12008_2176+12009insAAA
ENST00000683489.1:c.2186-87_2186-86insAAA	ENSP00000508403.1:n.2186-87_2186-86insAAA
ENST00000683680.1:c.2213-87_2213-86insAAA	ENSP00000507223.1:n.2213-87_2213-86insAAA
ENST00000684163.1:c.2203+5034_2203+5035insAAA	ENSP00000508262.1:n.2203+5034_2203+5035insAAA
ENST00000684196.1:n.4542+12008_4542+12009insAAA
ENST00000684325.1:c.2185+12008_2185+12009insAAA	ENSP00000508121.1:n.2185+12008_2185+12009insAAA
ENST00000684385.1:c.2220+5034_2220+5035insAAA	ENSP00000507855.1:n.2220+5034_2220+5035insAAA
ENST00000684497.1:c.2185+12008_2185+12009insAAA	ENSP00000507057.1:n.2185+12008_2185+12009insAAA
ENST00000382292.9:c.2186-87_2186-86insAAA MANE Select	ENSP00000371729.3:n.2186-87_2186-86insAAA
ENST00000423156.2:c.2185+12008_2185+12009insAAA	ENSP00000390925.2:n.2185+12008_2185+12009insAAA
ENST00000455470.6:c.2186-87_2186-86insAAA	ENSP00000406565.2:n.2186-87_2186-86insAAA
ENST00000382292.7:c.2186-87_2186-86insAAA	ENSP00000371729.3:n.2186-87_2186-86insAAA
ENST00000382298.7:c.2186-87_2186-86insAAA	ENSP00000371735.3:n.2186-87_2186-86insAAA
ENST00000402364.1:c.-65-87_-65-86insAAA	ENSP00000385844.1:n.-65-87_-65-86insAAA
ENST00000423156.1:c.1057+12008_1057+12009insAAA	ENSP00000390925.1:n.1057+12008_1057+12009insAAA
ENST00000455470.5:c.1884-87_1884-86insAAA
NM_001278055.1:c.1745-87_1745-86insAAA	NP_001264984.1:n.1745-87_1745-86insAAA
NM_014363.5:c.2186-87_2186-86insAAA	NP_055178.3:n.2186-87_2186-86insAAA
XM_005266338.1:c.2213-87_2213-86insAAA	XP_005266395.1:n.2213-87_2213-86insAAA
XM_011535038.1:c.2237-87_2237-86insAAA	XP_011533340.1:n.2237-87_2237-86insAAA
XM_011535039.1:c.2204-87_2204-86insAAA	XP_011533341.1:n.2204-87_2204-86insAAA
XM_005266338.2:c.2213-87_2213-86insAAA	XP_005266395.1:n.2213-87_2213-86insAAA
XM_011535039.2:c.2204-87_2204-86insAAA	XP_011533341.1:n.2204-87_2204-86insAAA
XM_017020539.1:c.2177-87_2177-86insAAA	XP_016876028.1:n.2177-87_2177-86insAAA
XM_024449337.1:c.2213-87_2213-86insAAA	XP_024305105.1:n.2213-87_2213-86insAAA
NM_014363.6:c.2186-87_2186-86insAAA MANE Select	NP_055178.3:n.2186-87_2186-86insAAA
NM_001278055.2:c.1745-87_1745-86insAAA	NP_001264984.1:n.1745-87_1745-86insAAA