Canonical Allele Identifier: CA912980155

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23914640_23914643del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340501_23340504del , CM000675.2:g.23340501_23340504del	GRCh38
NC_000013.10:g.23914640_23914643del , CM000675.1:g.23914640_23914643del	GRCh37
NC_000013.9:g.22812640_22812643del	NCBI36
NG_012342.1:g.98199_98202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13281_2185+13284del	ENSP00000508399.1:n.2185+13281_2185+13284del
ENST00000682944.1:c.3399_3402del	ENSP00000507173.1:p.Leu1134ArgfsTer10
ENST00000683210.1:c.2185+13281_2185+13284del	ENSP00000506739.1:n.2185+13281_2185+13284del
ENST00000683270.1:c.3363_3366del	ENSP00000507624.1:p.Leu1122ArgfsTer10
ENST00000683367.1:c.2177-11020_2177-11017del	ENSP00000507780.1:n.2177-11020_2177-11017del
ENST00000683489.1:c.2291+1081_2291+1084del	ENSP00000508403.1:n.2291+1081_2291+1084del
ENST00000683680.1:c.2318+1081_2318+1084del	ENSP00000507223.1:n.2318+1081_2318+1084del
ENST00000684163.1:c.2203+6307_2203+6310del	ENSP00000508262.1:n.2203+6307_2203+6310del
ENST00000684196.1:n.4543-11020_4543-11017del
ENST00000684325.1:c.2185+13281_2185+13284del	ENSP00000508121.1:n.2185+13281_2185+13284del
ENST00000684385.1:c.2220+6307_2220+6310del	ENSP00000507855.1:n.2220+6307_2220+6310del
ENST00000684497.1:c.2185+13281_2185+13284del	ENSP00000507057.1:n.2185+13281_2185+13284del
ENST00000382292.9:c.3372_3375del MANE Select	ENSP00000371729.3:p.Leu1125ArgfsTer10
ENST00000423156.2:c.2186-11020_2186-11017del	ENSP00000390925.2:n.2186-11020_2186-11017del
ENST00000455470.6:c.2431+941_2431+944del	ENSP00000406565.2:n.2431+941_2431+944del
ENST00000382292.7:c.3372_3375del	ENSP00000371729.3:p.Leu1125ArgfsTer10
ENST00000382298.7:c.3372_3375del	ENSP00000371735.3:p.Leu1125ArgfsTer10
ENST00000402364.1:c.1122_1125del	ENSP00000385844.1:p.Leu375ArgfsTer10
ENST00000423156.1:c.1058-11020_1058-11017del	ENSP00000390925.1:n.1058-11020_1058-11017del
ENST00000455470.5:c.2129+941_2129+944del
NM_001278055.1:c.2931_2934del	NP_001264984.1:p.Leu978ArgfsTer10
NM_014363.5:c.3372_3375del	NP_055178.3:p.Leu1125ArgfsTer10
XM_005266338.1:c.3399_3402del	XP_005266395.1:p.Leu1134ArgfsTer10
XM_011535038.1:c.3423_3426del	XP_011533340.1:p.Leu1142ArgfsTer10
XM_011535039.1:c.3390_3393del	XP_011533341.1:p.Leu1131ArgfsTer10
XM_005266338.2:c.3399_3402del	XP_005266395.1:p.Leu1134ArgfsTer10
XM_011535039.2:c.3390_3393del	XP_011533341.1:p.Leu1131ArgfsTer10
XM_017020539.1:c.3363_3366del	XP_016876028.1:p.Leu1122ArgfsTer10
XM_024449337.1:c.3399_3402del	XP_024305105.1:p.Leu1134ArgfsTer10
NM_014363.6:c.3372_3375del MANE Select	NP_055178.3:p.Leu1125ArgfsTer10
NM_001278055.2:c.2931_2934del	NP_001264984.1:p.Leu978ArgfsTer10