Canonical Allele Identifier: CA954038718

Gene: SACS

Linked Data

• dbSNP Id: rs1869263679
• gnomAD v3: 13-23341806-T-TTTGCG
• gnomAD v4: 13-23341806-T-TTTGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341806_23341807insTTGCG , CM000675.2:g.23341806_23341807insTTGCG	GRCh38
NC_000013.10:g.23915945_23915946insTTGCG , CM000675.1:g.23915945_23915946insTTGCG	GRCh37
NC_000013.9:g.22813945_22813946insTTGCG	NCBI36
NG_012342.1:g.96896_96897insCGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+11978_2185+11979insCGCAA	ENSP00000508399.1:n.2185+11978_2185+11979insCGCAA
ENST00000682944.1:c.2213-117_2213-116insCGCAA	ENSP00000507173.1:n.2213-117_2213-116insCGCAA
ENST00000683210.1:c.2185+11978_2185+11979insCGCAA	ENSP00000506739.1:n.2185+11978_2185+11979insCGCAA
ENST00000683270.1:c.2177-117_2177-116insCGCAA	ENSP00000507624.1:n.2177-117_2177-116insCGCAA
ENST00000683367.1:c.2176+11978_2176+11979insCGCAA	ENSP00000507780.1:n.2176+11978_2176+11979insCGCAA
ENST00000683489.1:c.2186-117_2186-116insCGCAA	ENSP00000508403.1:n.2186-117_2186-116insCGCAA
ENST00000683680.1:c.2213-117_2213-116insCGCAA	ENSP00000507223.1:n.2213-117_2213-116insCGCAA
ENST00000684163.1:c.2203+5004_2203+5005insCGCAA	ENSP00000508262.1:n.2203+5004_2203+5005insCGCAA
ENST00000684196.1:n.4542+11978_4542+11979insCGCAA
ENST00000684325.1:c.2185+11978_2185+11979insCGCAA	ENSP00000508121.1:n.2185+11978_2185+11979insCGCAA
ENST00000684385.1:c.2220+5004_2220+5005insCGCAA	ENSP00000507855.1:n.2220+5004_2220+5005insCGCAA
ENST00000684497.1:c.2185+11978_2185+11979insCGCAA	ENSP00000507057.1:n.2185+11978_2185+11979insCGCAA
ENST00000382292.9:c.2186-117_2186-116insCGCAA MANE Select	ENSP00000371729.3:n.2186-117_2186-116insCGCAA
ENST00000423156.2:c.2185+11978_2185+11979insCGCAA	ENSP00000390925.2:n.2185+11978_2185+11979insCGCAA
ENST00000455470.6:c.2186-117_2186-116insCGCAA	ENSP00000406565.2:n.2186-117_2186-116insCGCAA
ENST00000382292.7:c.2186-117_2186-116insCGCAA	ENSP00000371729.3:n.2186-117_2186-116insCGCAA
ENST00000382298.7:c.2186-117_2186-116insCGCAA	ENSP00000371735.3:n.2186-117_2186-116insCGCAA
ENST00000402364.1:c.-65-117_-65-116insCGCAA	ENSP00000385844.1:n.-65-117_-65-116insCGCAA
ENST00000423156.1:c.1057+11978_1057+11979insCGCAA	ENSP00000390925.1:n.1057+11978_1057+11979insCGCAA
ENST00000455470.5:c.1884-117_1884-116insCGCAA
NM_001278055.1:c.1745-117_1745-116insCGCAA	NP_001264984.1:n.1745-117_1745-116insCGCAA
NM_014363.5:c.2186-117_2186-116insCGCAA	NP_055178.3:n.2186-117_2186-116insCGCAA
XM_005266338.1:c.2213-117_2213-116insCGCAA	XP_005266395.1:n.2213-117_2213-116insCGCAA
XM_011535038.1:c.2237-117_2237-116insCGCAA	XP_011533340.1:n.2237-117_2237-116insCGCAA
XM_011535039.1:c.2204-117_2204-116insCGCAA	XP_011533341.1:n.2204-117_2204-116insCGCAA
XM_005266338.2:c.2213-117_2213-116insCGCAA	XP_005266395.1:n.2213-117_2213-116insCGCAA
XM_011535039.2:c.2204-117_2204-116insCGCAA	XP_011533341.1:n.2204-117_2204-116insCGCAA
XM_017020539.1:c.2177-117_2177-116insCGCAA	XP_016876028.1:n.2177-117_2177-116insCGCAA
XM_024449337.1:c.2213-117_2213-116insCGCAA	XP_024305105.1:n.2213-117_2213-116insCGCAA
NM_014363.6:c.2186-117_2186-116insCGCAA MANE Select	NP_055178.3:n.2186-117_2186-116insCGCAA
NM_001278055.2:c.1745-117_1745-116insCGCAA	NP_001264984.1:n.1745-117_1745-116insCGCAA