Canonical Allele Identifier: CA2078629066

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338276_23338278delinsATG , CM000675.2:g.23338276_23338278delinsATG	GRCh38
NC_000013.10:g.23912415_23912417delinsATG , CM000675.1:g.23912415_23912417delinsATG	GRCh37
NC_000013.9:g.22810415_22810417delinsATG	NCBI36
NG_012342.1:g.100425_100427delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15507_2185+15509delinsCAT	ENSP00000508399.1:n.2185+15507_2185+15509delinsCAT
ENST00000682944.1:c.5625_5627delinsCAT	ENSP00000507173.1:p.His1875=
ENST00000683210.1:c.2185+15507_2185+15509delinsCAT	ENSP00000506739.1:n.2185+15507_2185+15509delinsCAT
ENST00000683270.1:c.5589_5591delinsCAT	ENSP00000507624.1:p.His1863=
ENST00000683367.1:c.2177-8794_2177-8792delinsCAT	ENSP00000507780.1:n.2177-8794_2177-8792delinsCAT
ENST00000683489.1:c.2291+3307_2291+3309delinsCAT	ENSP00000508403.1:n.2291+3307_2291+3309delinsCAT
ENST00000683680.1:c.2318+3307_2318+3309delinsCAT	ENSP00000507223.1:n.2318+3307_2318+3309delinsCAT
ENST00000684163.1:c.2203+8533_2203+8535delinsCAT	ENSP00000508262.1:n.2203+8533_2203+8535delinsCAT
ENST00000684196.1:n.4543-8794_4543-8792delinsCAT
ENST00000684325.1:c.2185+15507_2185+15509delinsCAT	ENSP00000508121.1:n.2185+15507_2185+15509delinsCAT
ENST00000684385.1:c.2220+8533_2220+8535delinsCAT	ENSP00000507855.1:n.2220+8533_2220+8535delinsCAT
ENST00000684497.1:c.2185+15507_2185+15509delinsCAT	ENSP00000507057.1:n.2185+15507_2185+15509delinsCAT
ENST00000382292.9:c.5598_5600delinsCAT MANE Select	ENSP00000371729.3:p.His1866=
ENST00000423156.2:c.2186-8794_2186-8792delinsCAT	ENSP00000390925.2:n.2186-8794_2186-8792delinsCAT
ENST00000455470.6:c.2431+3167_2431+3169delinsCAT	ENSP00000406565.2:n.2431+3167_2431+3169delinsCAT
ENST00000382292.7:c.5598_5600delinsCAT	ENSP00000371729.3:p.His1866=
ENST00000382298.7:c.5598_5600delinsCAT	ENSP00000371735.3:p.His1866=
ENST00000402364.1:c.3348_3350delinsCAT	ENSP00000385844.1:p.His1116=
ENST00000423156.1:c.1058-8794_1058-8792delinsCAT	ENSP00000390925.1:n.1058-8794_1058-8792delinsCAT
ENST00000455470.5:c.2129+3167_2129+3169delinsCAT
NM_001278055.1:c.5157_5159delinsCAT	NP_001264984.1:p.His1719=
NM_014363.5:c.5598_5600delinsCAT	NP_055178.3:p.His1866=
XM_005266338.1:c.5625_5627delinsCAT	XP_005266395.1:p.His1875=
XM_011535038.1:c.5649_5651delinsCAT	XP_011533340.1:p.His1883=
XM_011535039.1:c.5616_5618delinsCAT	XP_011533341.1:p.His1872=
XM_005266338.2:c.5625_5627delinsCAT	XP_005266395.1:p.His1875=
XM_011535039.2:c.5616_5618delinsCAT	XP_011533341.1:p.His1872=
XM_017020539.1:c.5589_5591delinsCAT	XP_016876028.1:p.His1863=
XM_024449337.1:c.5625_5627delinsCAT	XP_024305105.1:p.His1875=
NM_014363.6:c.5598_5600delinsCAT MANE Select	NP_055178.3:p.His1866=
NM_001278055.2:c.5157_5159delinsCAT	NP_001264984.1:p.His1719=