Canonical Allele Identifier: CA2622331519

Gene: SACS

Linked Data

• gnomAD v4: 13-23358590-GGAGTGAATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358597_23358605del , CM000675.2:g.23358597_23358605del	GRCh38
NC_000013.10:g.23932736_23932744del , CM000675.1:g.23932736_23932744del	GRCh37
NC_000013.9:g.22830736_22830744del	NCBI36
NG_012342.1:g.80104_80112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.458-118_458-110del	ENSP00000508399.1:n.458-118_458-110del
ENST00000682944.1:c.458-118_458-110del	ENSP00000507173.1:n.458-118_458-110del
ENST00000683154.1:n.596-118_596-110del
ENST00000683210.1:c.458-118_458-110del	ENSP00000506739.1:n.458-118_458-110del
ENST00000683270.1:c.449-118_449-110del	ENSP00000507624.1:n.449-118_449-110del
ENST00000683367.1:c.449-118_449-110del	ENSP00000507780.1:n.449-118_449-110del
ENST00000683489.1:c.458-118_458-110del	ENSP00000508403.1:n.458-118_458-110del
ENST00000683680.1:c.458-118_458-110del	ENSP00000507223.1:n.458-118_458-110del
ENST00000684163.1:c.449-118_449-110del	ENSP00000508262.1:n.449-118_449-110del
ENST00000684196.1:n.2815-118_2815-110del
ENST00000684325.1:c.458-118_458-110del	ENSP00000508121.1:n.458-118_458-110del
ENST00000684385.1:c.458-118_458-110del	ENSP00000507855.1:n.458-118_458-110del
ENST00000684497.1:c.458-118_458-110del	ENSP00000507057.1:n.458-118_458-110del
ENST00000382292.9:c.458-118_458-110del MANE Select	ENSP00000371729.3:n.458-118_458-110del
ENST00000423156.2:c.458-118_458-110del	ENSP00000390925.2:n.458-118_458-110del
ENST00000455470.6:c.458-118_458-110del	ENSP00000406565.2:n.458-118_458-110del
ENST00000382292.7:c.458-118_458-110del	ENSP00000371729.3:n.458-118_458-110del
ENST00000382298.7:c.458-118_458-110del	ENSP00000371735.3:n.458-118_458-110del
ENST00000402364.1:c.-1793-118_-1793-110del	ENSP00000385844.1:n.-1793-118_-1793-110del
ENST00000455470.5:c.156-118_156-110del
NM_001278055.1:c.17-118_17-110del	NP_001264984.1:n.17-118_17-110del
NM_014363.5:c.458-118_458-110del	NP_055178.3:n.458-118_458-110del
XM_005266338.1:c.458-118_458-110del	XP_005266395.1:n.458-118_458-110del
XM_011535038.1:c.482-118_482-110del	XP_011533340.1:n.482-118_482-110del
XM_011535039.1:c.449-118_449-110del	XP_011533341.1:n.449-118_449-110del
XM_005266338.2:c.458-118_458-110del	XP_005266395.1:n.458-118_458-110del
XM_011535039.2:c.449-118_449-110del	XP_011533341.1:n.449-118_449-110del
XM_017020539.1:c.449-118_449-110del	XP_016876028.1:n.449-118_449-110del
XM_024449337.1:c.458-118_458-110del	XP_024305105.1:n.458-118_458-110del
NM_014363.6:c.458-118_458-110del MANE Select	NP_055178.3:n.458-118_458-110del
NM_001278055.2:c.17-118_17-110del	NP_001264984.1:n.17-118_17-110del