Canonical Allele Identifier: CA2078627121

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337227_23337228delinsGA , CM000675.2:g.23337227_23337228delinsGA	GRCh38
NC_000013.10:g.23911366_23911367delinsGA , CM000675.1:g.23911366_23911367delinsGA	GRCh37
NC_000013.9:g.22809366_22809367delinsGA	NCBI36
NG_012342.1:g.101475_101476delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16557_2185+16558delinsTC	ENSP00000508399.1:n.2185+16557_2185+16558...
ENST00000682944.1:c.6675_6676delinsTC	ENSP00000507173.1:p.Leu2225=
ENST00000683210.1:c.2185+16557_2185+16558delinsTC	ENSP00000506739.1:n.2185+16557_2185+16558...
ENST00000683270.1:c.6445+194_6445+195delinsTC	ENSP00000507624.1:n.6445+194_6445+195deli...
ENST00000683367.1:c.2177-7744_2177-7743delinsTC	ENSP00000507780.1:n.2177-7744_2177-7743de...
ENST00000683489.1:c.2291+4357_2291+4358delinsTC	ENSP00000508403.1:n.2291+4357_2291+4358de...
ENST00000683680.1:c.2318+4357_2318+4358delinsTC	ENSP00000507223.1:n.2318+4357_2318+4358de...
ENST00000684163.1:c.2204-7744_2204-7743delinsTC	ENSP00000508262.1:n.2204-7744_2204-7743de...
ENST00000684196.1:n.4543-7744_4543-7743delinsTC
ENST00000684325.1:c.2186-15554_2186-15553delinsTC	ENSP00000508121.1:n.2186-15554_2186-15553...
ENST00000684385.1:c.2221-7744_2221-7743delinsTC	ENSP00000507855.1:n.2221-7744_2221-7743de...
ENST00000684497.1:c.2186-14584_2186-14583delinsTC	ENSP00000507057.1:n.2186-14584_2186-14583...
ENST00000382292.9:c.6648_6649delinsTC MANE Select	ENSP00000371729.3:p.Leu2216=
ENST00000423156.2:c.2186-7744_2186-7743delinsTC	ENSP00000390925.2:n.2186-7744_2186-7743de...
ENST00000455470.6:c.2431+4217_2431+4218delinsTC	ENSP00000406565.2:n.2431+4217_2431+4218de...
ENST00000382292.7:c.6648_6649delinsTC	ENSP00000371729.3:p.Leu2216=
ENST00000382298.7:c.6648_6649delinsTC	ENSP00000371735.3:p.Leu2216=
ENST00000402364.1:c.4398_4399delinsTC	ENSP00000385844.1:p.Leu1466=
ENST00000423156.1:c.1058-7744_1058-7743delinsTC	ENSP00000390925.1:n.1058-7744_1058-7743de...
ENST00000455470.5:c.2129+4217_2129+4218delinsTC
NM_001278055.1:c.6207_6208delinsTC	NP_001264984.1:p.Leu2069=
NM_014363.5:c.6648_6649delinsTC	NP_055178.3:p.Leu2216=
XM_005266338.1:c.6675_6676delinsTC	XP_005266395.1:p.Leu2225=
XM_011535038.1:c.6699_6700delinsTC	XP_011533340.1:p.Leu2233=
XM_011535039.1:c.6666_6667delinsTC	XP_011533341.1:p.Leu2222=
XM_005266338.2:c.6675_6676delinsTC	XP_005266395.1:p.Leu2225=
XM_011535039.2:c.6666_6667delinsTC	XP_011533341.1:p.Leu2222=
XM_017020539.1:c.6639_6640delinsTC	XP_016876028.1:p.Leu2213=
XM_024449337.1:c.6675_6676delinsTC	XP_024305105.1:p.Leu2225=
NM_014363.6:c.6648_6649delinsTC MANE Select	NP_055178.3:p.Leu2216=
NM_001278055.2:c.6207_6208delinsTC	NP_001264984.1:p.Leu2069=