Canonical Allele Identifier: CA2832782356

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358461_23358463del , CM000675.2:g.23358461_23358463del	GRCh38
NC_000013.10:g.23932600_23932602del , CM000675.1:g.23932600_23932602del	GRCh37
NC_000013.9:g.22830600_22830602del	NCBI36
NG_012342.1:g.80245_80247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.481_483del	ENSP00000508399.1:p.Asn161del
ENST00000682944.1:c.481_483del	ENSP00000507173.1:p.Asn161del
ENST00000683154.1:n.619_621del
ENST00000683210.1:c.481_483del	ENSP00000506739.1:p.Asn161del
ENST00000683270.1:c.472_474del	ENSP00000507624.1:p.Asn158del
ENST00000683367.1:c.472_474del	ENSP00000507780.1:p.Asn158del
ENST00000683489.1:c.481_483del	ENSP00000508403.1:p.Asn161del
ENST00000683680.1:c.481_483del	ENSP00000507223.1:p.Asn161del
ENST00000684163.1:c.472_474del	ENSP00000508262.1:p.Asn158del
ENST00000684196.1:n.2838_2840del
ENST00000684325.1:c.481_483del	ENSP00000508121.1:p.Asn161del
ENST00000684385.1:c.481_483del	ENSP00000507855.1:p.Asn161del
ENST00000684497.1:c.481_483del	ENSP00000507057.1:p.Asn161del
ENST00000382292.9:c.481_483del MANE Select	ENSP00000371729.3:p.Asn161del
ENST00000423156.2:c.481_483del	ENSP00000390925.2:p.Asn161del
ENST00000455470.6:c.481_483del	ENSP00000406565.2:p.Asn161del
ENST00000382292.7:c.481_483del	ENSP00000371729.3:p.Asn161del
ENST00000382298.7:c.481_483del	ENSP00000371735.3:p.Asn161del
ENST00000402364.1:c.-1770_-1768del	ENSP00000385844.1:n.-1770_-1768del
ENST00000455470.5:c.179_181del
NM_001278055.1:c.40_42del	NP_001264984.1:p.Asn14del
NM_014363.5:c.481_483del	NP_055178.3:p.Asn161del
XM_005266338.1:c.481_483del	XP_005266395.1:p.Asn161del
XM_011535038.1:c.505_507del	XP_011533340.1:p.Asn169del
XM_011535039.1:c.472_474del	XP_011533341.1:p.Asn158del
XM_005266338.2:c.481_483del	XP_005266395.1:p.Asn161del
XM_011535039.2:c.472_474del	XP_011533341.1:p.Asn158del
XM_017020539.1:c.472_474del	XP_016876028.1:p.Asn158del
XM_024449337.1:c.481_483del	XP_024305105.1:p.Asn161del
NM_014363.6:c.481_483del MANE Select	NP_055178.3:p.Asn161del
NM_001278055.2:c.40_42del	NP_001264984.1:p.Asn14del