Canonical Allele Identifier: CA6910707

Gene: SACS

Linked Data

• dbSNP Id: rs759140023
• ExAC: 13:23909171 AG / A
• gnomAD v2: 13-23909171-AG-A
• gnomAD v4: 13-23335032-AG-A
• MyVariant Identifiers: chr13:g.23909172del (hg19) ; chr13:g.23335033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335036del , CM000675.2:g.23335036del	GRCh38
NC_000013.10:g.23909175del , CM000675.1:g.23909175del	GRCh37
NC_000013.9:g.22807175del	NCBI36
NG_012342.1:g.103670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+18752del	ENSP00000508399.1:n.2185+18752del
ENST00000682944.1:c.8870del	ENSP00000507173.1:p.Pro2957LeufsTer5
ENST00000683210.1:c.2185+18752del	ENSP00000506739.1:n.2185+18752del
ENST00000683270.1:c.6445+2389del	ENSP00000507624.1:n.6445+2389del
ENST00000683367.1:c.2177-5549del	ENSP00000507780.1:n.2177-5549del
ENST00000683489.1:c.2292-5081del	ENSP00000508403.1:n.2292-5081del
ENST00000683680.1:c.2319-5081del	ENSP00000507223.1:n.2319-5081del
ENST00000684163.1:c.2204-5549del	ENSP00000508262.1:n.2204-5549del
ENST00000684196.1:n.4543-5549del
ENST00000684325.1:c.2186-13359del	ENSP00000508121.1:n.2186-13359del
ENST00000684385.1:c.2221-5549del	ENSP00000507855.1:n.2221-5549del
ENST00000684497.1:c.2186-12389del	ENSP00000507057.1:n.2186-12389del
ENST00000382292.9:c.8843del MANE Select	ENSP00000371729.3:p.Pro2948LeufsTer5
ENST00000423156.2:c.2186-5549del	ENSP00000390925.2:n.2186-5549del
ENST00000455470.6:c.2432-5549del	ENSP00000406565.2:n.2432-5549del
ENST00000382292.7:c.8843del	ENSP00000371729.3:p.Pro2948LeufsTer5
ENST00000382298.7:c.8843del	ENSP00000371735.3:p.Pro2948LeufsTer5
ENST00000402364.1:c.6593del	ENSP00000385844.1:p.Pro2198LeufsTer5
ENST00000423156.1:c.1058-5549del	ENSP00000390925.1:n.1058-5549del
ENST00000455470.5:c.2130-5549del
NM_001278055.1:c.8402del	NP_001264984.1:p.Pro2801LeufsTer5
NM_014363.5:c.8843del	NP_055178.3:p.Pro2948LeufsTer5
XM_005266338.1:c.8870del	XP_005266395.1:p.Pro2957LeufsTer5
XM_011535038.1:c.8894del	XP_011533340.1:p.Pro2965LeufsTer5
XM_011535039.1:c.8861del	XP_011533341.1:p.Pro2954LeufsTer5
XM_005266338.2:c.8870del	XP_005266395.1:p.Pro2957LeufsTer5
XM_011535039.2:c.8861del	XP_011533341.1:p.Pro2954LeufsTer5
XM_017020539.1:c.8834del	XP_016876028.1:p.Pro2945LeufsTer5
XM_024449337.1:c.8870del	XP_024305105.1:p.Pro2957LeufsTer5
NM_014363.6:c.8843del MANE Select	NP_055178.3:p.Pro2948LeufsTer5
NM_001278055.2:c.8402del	NP_001264984.1:p.Pro2801LeufsTer5