Canonical Allele Identifier: CA483160430

Gene: SACS

Linked Data

• dbSNP Id: rs1316528382
• gnomAD v2: 13-23908829-AAGG-A
• gnomAD v3: 13-23334690-AAGG-A
• gnomAD v4: 13-23334690-AAGG-A
• MyVariant Identifiers: chr13:g.23908830_23908832del (hg19) ; chr13:g.23334691_23334693del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334693_23334695del , CM000675.2:g.23334693_23334695del	GRCh38
NC_000013.10:g.23908832_23908834del , CM000675.1:g.23908832_23908834del	GRCh37
NC_000013.9:g.22806832_22806834del	NCBI36
NG_012342.1:g.104010_104012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19092_2185+19094del	ENSP00000508399.1:n.2185+19092_2185+19094del
ENST00000682944.1:c.9210_9212del	ENSP00000507173.1:p.Leu3071del
ENST00000683210.1:c.2185+19092_2185+19094del	ENSP00000506739.1:n.2185+19092_2185+19094del
ENST00000683270.1:c.6445+2729_6445+2731del	ENSP00000507624.1:n.6445+2729_6445+2731del
ENST00000683367.1:c.2177-5209_2177-5207del	ENSP00000507780.1:n.2177-5209_2177-5207del
ENST00000683489.1:c.2292-4741_2292-4739del	ENSP00000508403.1:n.2292-4741_2292-4739del
ENST00000683680.1:c.2319-4741_2319-4739del	ENSP00000507223.1:n.2319-4741_2319-4739del
ENST00000684163.1:c.2204-5209_2204-5207del	ENSP00000508262.1:n.2204-5209_2204-5207del
ENST00000684196.1:n.4543-5209_4543-5207del
ENST00000684325.1:c.2186-13019_2186-13017del	ENSP00000508121.1:n.2186-13019_2186-13017del
ENST00000684385.1:c.2221-5209_2221-5207del	ENSP00000507855.1:n.2221-5209_2221-5207del
ENST00000684497.1:c.2186-12049_2186-12047del	ENSP00000507057.1:n.2186-12049_2186-12047del
ENST00000382292.9:c.9183_9185del MANE Select	ENSP00000371729.3:p.Leu3062del
ENST00000423156.2:c.2186-5209_2186-5207del	ENSP00000390925.2:n.2186-5209_2186-5207del
ENST00000455470.6:c.2432-5209_2432-5207del	ENSP00000406565.2:n.2432-5209_2432-5207del
ENST00000382292.7:c.9183_9185del	ENSP00000371729.3:p.Leu3062del
ENST00000382298.7:c.9183_9185del	ENSP00000371735.3:p.Leu3062del
ENST00000402364.1:c.6933_6935del	ENSP00000385844.1:p.Leu2312del
ENST00000423156.1:c.1058-5209_1058-5207del	ENSP00000390925.1:n.1058-5209_1058-5207del
ENST00000455470.5:c.2130-5209_2130-5207del
NM_001278055.1:c.8742_8744del	NP_001264984.1:p.Leu2915del
NM_014363.5:c.9183_9185del	NP_055178.3:p.Leu3062del
XM_005266338.1:c.9210_9212del	XP_005266395.1:p.Leu3071del
XM_011535038.1:c.9234_9236del	XP_011533340.1:p.Leu3079del
XM_011535039.1:c.9201_9203del	XP_011533341.1:p.Leu3068del
XM_005266338.2:c.9210_9212del	XP_005266395.1:p.Leu3071del
XM_011535039.2:c.9201_9203del	XP_011533341.1:p.Leu3068del
XM_017020539.1:c.9174_9176del	XP_016876028.1:p.Leu3059del
XM_024449337.1:c.9210_9212del	XP_024305105.1:p.Leu3071del
NM_014363.6:c.9183_9185del MANE Select	NP_055178.3:p.Leu3062del
NM_001278055.2:c.8742_8744del	NP_001264984.1:p.Leu2915del