Canonical Allele Identifier: CA2078645307

Gene: SACS

Linked Data

• dbSNP Id: rs1869260090

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341788_23341789insC , CM000675.2:g.23341788_23341789insC	GRCh38
NC_000013.10:g.23915927_23915928insC , CM000675.1:g.23915927_23915928insC	GRCh37
NC_000013.9:g.22813927_22813928insC	NCBI36
NG_012342.1:g.96914_96915insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+11996_2185+11997insG	ENSP00000508399.1:n.2185+11996_2185+11997insG
ENST00000682944.1:c.2213-99_2213-98insG	ENSP00000507173.1:n.2213-99_2213-98insG
ENST00000683210.1:c.2185+11996_2185+11997insG	ENSP00000506739.1:n.2185+11996_2185+11997insG
ENST00000683270.1:c.2177-99_2177-98insG	ENSP00000507624.1:n.2177-99_2177-98insG
ENST00000683367.1:c.2176+11996_2176+11997insG	ENSP00000507780.1:n.2176+11996_2176+11997insG
ENST00000683489.1:c.2186-99_2186-98insG	ENSP00000508403.1:n.2186-99_2186-98insG
ENST00000683680.1:c.2213-99_2213-98insG	ENSP00000507223.1:n.2213-99_2213-98insG
ENST00000684163.1:c.2203+5022_2203+5023insG	ENSP00000508262.1:n.2203+5022_2203+5023insG
ENST00000684196.1:n.4542+11996_4542+11997insG
ENST00000684325.1:c.2185+11996_2185+11997insG	ENSP00000508121.1:n.2185+11996_2185+11997insG
ENST00000684385.1:c.2220+5022_2220+5023insG	ENSP00000507855.1:n.2220+5022_2220+5023insG
ENST00000684497.1:c.2185+11996_2185+11997insG	ENSP00000507057.1:n.2185+11996_2185+11997insG
ENST00000382292.9:c.2186-99_2186-98insG MANE Select	ENSP00000371729.3:n.2186-99_2186-98insG
ENST00000423156.2:c.2185+11996_2185+11997insG	ENSP00000390925.2:n.2185+11996_2185+11997insG
ENST00000455470.6:c.2186-99_2186-98insG	ENSP00000406565.2:n.2186-99_2186-98insG
ENST00000382292.7:c.2186-99_2186-98insG	ENSP00000371729.3:n.2186-99_2186-98insG
ENST00000382298.7:c.2186-99_2186-98insG	ENSP00000371735.3:n.2186-99_2186-98insG
ENST00000402364.1:c.-65-99_-65-98insG	ENSP00000385844.1:n.-65-99_-65-98insG
ENST00000423156.1:c.1057+11996_1057+11997insG	ENSP00000390925.1:n.1057+11996_1057+11997insG
ENST00000455470.5:c.1884-99_1884-98insG
NM_001278055.1:c.1745-99_1745-98insG	NP_001264984.1:n.1745-99_1745-98insG
NM_014363.5:c.2186-99_2186-98insG	NP_055178.3:n.2186-99_2186-98insG
XM_005266338.1:c.2213-99_2213-98insG	XP_005266395.1:n.2213-99_2213-98insG
XM_011535038.1:c.2237-99_2237-98insG	XP_011533340.1:n.2237-99_2237-98insG
XM_011535039.1:c.2204-99_2204-98insG	XP_011533341.1:n.2204-99_2204-98insG
XM_005266338.2:c.2213-99_2213-98insG	XP_005266395.1:n.2213-99_2213-98insG
XM_011535039.2:c.2204-99_2204-98insG	XP_011533341.1:n.2204-99_2204-98insG
XM_017020539.1:c.2177-99_2177-98insG	XP_016876028.1:n.2177-99_2177-98insG
XM_024449337.1:c.2213-99_2213-98insG	XP_024305105.1:n.2213-99_2213-98insG
NM_014363.6:c.2186-99_2186-98insG MANE Select	NP_055178.3:n.2186-99_2186-98insG
NM_001278055.2:c.1745-99_1745-98insG	NP_001264984.1:n.1745-99_1745-98insG