Canonical Allele Identifier: CA2078627893

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337703_23337704delinsGA , CM000675.2:g.23337703_23337704delinsGA	GRCh38
NC_000013.10:g.23911842_23911843delinsGA , CM000675.1:g.23911842_23911843delinsGA	GRCh37
NC_000013.9:g.22809842_22809843delinsGA	NCBI36
NG_012342.1:g.100999_101000delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16081_2185+16082delinsTC	ENSP00000508399.1:n.2185+16081_2185+16082delinsTC
ENST00000682944.1:c.6199_6200delinsTC	ENSP00000507173.1:p.Ser2067=
ENST00000683210.1:c.2185+16081_2185+16082delinsTC	ENSP00000506739.1:n.2185+16081_2185+16082delinsTC
ENST00000683270.1:c.6163_6164delinsTC	ENSP00000507624.1:p.Ser2055=
ENST00000683367.1:c.2177-8220_2177-8219delinsTC	ENSP00000507780.1:n.2177-8220_2177-8219delinsTC
ENST00000683489.1:c.2291+3881_2291+3882delinsTC	ENSP00000508403.1:n.2291+3881_2291+3882delinsTC
ENST00000683680.1:c.2318+3881_2318+3882delinsTC	ENSP00000507223.1:n.2318+3881_2318+3882delinsTC
ENST00000684163.1:c.2204-8220_2204-8219delinsTC	ENSP00000508262.1:n.2204-8220_2204-8219delinsTC
ENST00000684196.1:n.4543-8220_4543-8219delinsTC
ENST00000684325.1:c.2186-16030_2186-16029delinsTC	ENSP00000508121.1:n.2186-16030_2186-16029delinsTC
ENST00000684385.1:c.2221-8220_2221-8219delinsTC	ENSP00000507855.1:n.2221-8220_2221-8219delinsTC
ENST00000684497.1:c.2186-15060_2186-15059delinsTC	ENSP00000507057.1:n.2186-15060_2186-15059delinsTC
ENST00000382292.9:c.6172_6173delinsTC MANE Select	ENSP00000371729.3:p.Ser2058=
ENST00000423156.2:c.2186-8220_2186-8219delinsTC	ENSP00000390925.2:n.2186-8220_2186-8219delinsTC
ENST00000455470.6:c.2431+3741_2431+3742delinsTC	ENSP00000406565.2:n.2431+3741_2431+3742delinsTC
ENST00000382292.7:c.6172_6173delinsTC	ENSP00000371729.3:p.Ser2058=
ENST00000382298.7:c.6172_6173delinsTC	ENSP00000371735.3:p.Ser2058=
ENST00000402364.1:c.3922_3923delinsTC	ENSP00000385844.1:p.Ser1308=
ENST00000423156.1:c.1058-8220_1058-8219delinsTC	ENSP00000390925.1:n.1058-8220_1058-8219delinsTC
ENST00000455470.5:c.2129+3741_2129+3742delinsTC
NM_001278055.1:c.5731_5732delinsTC	NP_001264984.1:p.Ser1911=
NM_014363.5:c.6172_6173delinsTC	NP_055178.3:p.Ser2058=
XM_005266338.1:c.6199_6200delinsTC	XP_005266395.1:p.Ser2067=
XM_011535038.1:c.6223_6224delinsTC	XP_011533340.1:p.Ser2075=
XM_011535039.1:c.6190_6191delinsTC	XP_011533341.1:p.Ser2064=
XM_005266338.2:c.6199_6200delinsTC	XP_005266395.1:p.Ser2067=
XM_011535039.2:c.6190_6191delinsTC	XP_011533341.1:p.Ser2064=
XM_017020539.1:c.6163_6164delinsTC	XP_016876028.1:p.Ser2055=
XM_024449337.1:c.6199_6200delinsTC	XP_024305105.1:p.Ser2067=
NM_014363.6:c.6172_6173delinsTC MANE Select	NP_055178.3:p.Ser2058=
NM_001278055.2:c.5731_5732delinsTC	NP_001264984.1:p.Ser1911=