Canonical Allele Identifier: CA2622329218

Gene: SACS

Linked Data

• gnomAD v4: 13-23341841-C-CAGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341842_23341845dup , CM000675.2:g.23341842_23341845dup	GRCh38
NC_000013.10:g.23915981_23915984dup , CM000675.1:g.23915981_23915984dup	GRCh37
NC_000013.9:g.22813981_22813984dup	NCBI36
NG_012342.1:g.96858_96861dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+11940_2185+11943dup	ENSP00000508399.1:n.2185+11940_2185+11943dup
ENST00000682944.1:c.2213-155_2213-152dup	ENSP00000507173.1:n.2213-155_2213-152dup
ENST00000683210.1:c.2185+11940_2185+11943dup	ENSP00000506739.1:n.2185+11940_2185+11943dup
ENST00000683270.1:c.2177-155_2177-152dup	ENSP00000507624.1:n.2177-155_2177-152dup
ENST00000683367.1:c.2176+11940_2176+11943dup	ENSP00000507780.1:n.2176+11940_2176+11943dup
ENST00000683489.1:c.2186-155_2186-152dup	ENSP00000508403.1:n.2186-155_2186-152dup
ENST00000683680.1:c.2213-155_2213-152dup	ENSP00000507223.1:n.2213-155_2213-152dup
ENST00000684163.1:c.2203+4966_2203+4969dup	ENSP00000508262.1:n.2203+4966_2203+4969dup
ENST00000684196.1:n.4542+11940_4542+11943dup
ENST00000684325.1:c.2185+11940_2185+11943dup	ENSP00000508121.1:n.2185+11940_2185+11943dup
ENST00000684385.1:c.2220+4966_2220+4969dup	ENSP00000507855.1:n.2220+4966_2220+4969dup
ENST00000684497.1:c.2185+11940_2185+11943dup	ENSP00000507057.1:n.2185+11940_2185+11943dup
ENST00000382292.9:c.2186-155_2186-152dup MANE Select	ENSP00000371729.3:n.2186-155_2186-152dup
ENST00000423156.2:c.2185+11940_2185+11943dup	ENSP00000390925.2:n.2185+11940_2185+11943dup
ENST00000455470.6:c.2186-155_2186-152dup	ENSP00000406565.2:n.2186-155_2186-152dup
ENST00000382292.7:c.2186-155_2186-152dup	ENSP00000371729.3:n.2186-155_2186-152dup
ENST00000382298.7:c.2186-155_2186-152dup	ENSP00000371735.3:n.2186-155_2186-152dup
ENST00000402364.1:c.-65-155_-65-152dup	ENSP00000385844.1:n.-65-155_-65-152dup
ENST00000423156.1:c.1057+11940_1057+11943dup	ENSP00000390925.1:n.1057+11940_1057+11943dup
ENST00000455470.5:c.1884-155_1884-152dup
NM_001278055.1:c.1745-155_1745-152dup	NP_001264984.1:n.1745-155_1745-152dup
NM_014363.5:c.2186-155_2186-152dup	NP_055178.3:n.2186-155_2186-152dup
XM_005266338.1:c.2213-155_2213-152dup	XP_005266395.1:n.2213-155_2213-152dup
XM_011535038.1:c.2237-155_2237-152dup	XP_011533340.1:n.2237-155_2237-152dup
XM_011535039.1:c.2204-155_2204-152dup	XP_011533341.1:n.2204-155_2204-152dup
XM_005266338.2:c.2213-155_2213-152dup	XP_005266395.1:n.2213-155_2213-152dup
XM_011535039.2:c.2204-155_2204-152dup	XP_011533341.1:n.2204-155_2204-152dup
XM_017020539.1:c.2177-155_2177-152dup	XP_016876028.1:n.2177-155_2177-152dup
XM_024449337.1:c.2213-155_2213-152dup	XP_024305105.1:n.2213-155_2213-152dup
NM_014363.6:c.2186-155_2186-152dup MANE Select	NP_055178.3:n.2186-155_2186-152dup
NM_001278055.2:c.1745-155_1745-152dup	NP_001264984.1:n.1745-155_1745-152dup