Canonical Allele Identifier: CA246686406

Gene: SACS

Linked Data

• dbSNP Id: rs982712218
• gnomAD v2: 13-23942381-AGCTATACACT-A
• gnomAD v3: 13-23368242-AGCTATACACT-A
• gnomAD v4: 13-23368242-AGCTATACACT-A
• MyVariant Identifiers: chr13:g.23942382_23942391del (hg19) ; chr13:g.23368243_23368252del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23368255_23368264del , CM000675.2:g.23368255_23368264del	GRCh38
NC_000013.10:g.23942394_23942403del , CM000675.1:g.23942394_23942403del	GRCh37
NC_000013.9:g.22840394_22840403del	NCBI36
NG_012342.1:g.70451_70460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.918+150_918+159del
ENST00000682354.1:n.1110+150_1110+159del
ENST00000682775.1:c.345+150_345+159del	ENSP00000508399.1:n.345+150_345+159del
ENST00000682944.1:c.345+150_345+159del	ENSP00000507173.1:n.345+150_345+159del
ENST00000683154.1:n.483+150_483+159del
ENST00000683210.1:c.345+150_345+159del	ENSP00000506739.1:n.345+150_345+159del
ENST00000683270.1:c.336+150_336+159del	ENSP00000507624.1:n.336+150_336+159del
ENST00000683367.1:c.336+150_336+159del	ENSP00000507780.1:n.336+150_336+159del
ENST00000683489.1:c.345+150_345+159del	ENSP00000508403.1:n.345+150_345+159del
ENST00000683680.1:c.345+150_345+159del	ENSP00000507223.1:n.345+150_345+159del
ENST00000684053.1:n.462+150_462+159del
ENST00000684163.1:c.336+150_336+159del	ENSP00000508262.1:n.336+150_336+159del
ENST00000684196.1:n.2702+150_2702+159del
ENST00000684325.1:c.345+150_345+159del	ENSP00000508121.1:n.345+150_345+159del
ENST00000684385.1:c.345+150_345+159del	ENSP00000507855.1:n.345+150_345+159del
ENST00000684497.1:c.345+150_345+159del	ENSP00000507057.1:n.345+150_345+159del
ENST00000382292.9:c.345+150_345+159del MANE Select	ENSP00000371729.3:n.345+150_345+159del
ENST00000423156.2:c.345+150_345+159del	ENSP00000390925.2:n.345+150_345+159del
ENST00000455470.6:c.345+150_345+159del	ENSP00000406565.2:n.345+150_345+159del
ENST00000382292.7:c.345+150_345+159del	ENSP00000371729.3:n.345+150_345+159del
ENST00000382298.7:c.345+150_345+159del	ENSP00000371735.3:n.345+150_345+159del
ENST00000402364.1:c.-1906+150_-1906+159del	ENSP00000385844.1:n.-1906+150_-1906+159del
ENST00000455470.5:c.43+150_43+159del
NM_001278055.1:c.-97+150_-97+159del	NP_001264984.1:n.-97+150_-97+159del
NM_014363.5:c.345+150_345+159del	NP_055178.3:n.345+150_345+159del
XM_005266338.1:c.345+150_345+159del	XP_005266395.1:n.345+150_345+159del
XM_011535038.1:c.369+150_369+159del	XP_011533340.1:n.369+150_369+159del
XM_011535039.1:c.336+150_336+159del	XP_011533341.1:n.336+150_336+159del
XM_005266338.2:c.345+150_345+159del	XP_005266395.1:n.345+150_345+159del
XM_011535039.2:c.336+150_336+159del	XP_011533341.1:n.336+150_336+159del
XM_017020539.1:c.336+150_336+159del	XP_016876028.1:n.336+150_336+159del
XM_024449337.1:c.345+150_345+159del	XP_024305105.1:n.345+150_345+159del
NM_014363.6:c.345+150_345+159del MANE Select	NP_055178.3:n.345+150_345+159del
NM_001278055.2:c.-97+150_-97+159del	NP_001264984.1:n.-97+150_-97+159del