Canonical Allele Identifier: CA2078627758

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337555_23337556delinsCA , CM000675.2:g.23337555_23337556delinsCA	GRCh38
NC_000013.10:g.23911694_23911695delinsCA , CM000675.1:g.23911694_23911695delinsCA	GRCh37
NC_000013.9:g.22809694_22809695delinsCA	NCBI36
NG_012342.1:g.101147_101148delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16229_2185+16230delinsTG	ENSP00000508399.1:n.2185+16229_2185+16230delinsTG
ENST00000682944.1:c.6347_6348delinsTG	ENSP00000507173.1:p.Leu2116=
ENST00000683210.1:c.2185+16229_2185+16230delinsTG	ENSP00000506739.1:n.2185+16229_2185+16230delinsTG
ENST00000683270.1:c.6311_6312delinsTG	ENSP00000507624.1:p.Leu2104=
ENST00000683367.1:c.2177-8072_2177-8071delinsTG	ENSP00000507780.1:n.2177-8072_2177-8071delinsTG
ENST00000683489.1:c.2291+4029_2291+4030delinsTG	ENSP00000508403.1:n.2291+4029_2291+4030delinsTG
ENST00000683680.1:c.2318+4029_2318+4030delinsTG	ENSP00000507223.1:n.2318+4029_2318+4030delinsTG
ENST00000684163.1:c.2204-8072_2204-8071delinsTG	ENSP00000508262.1:n.2204-8072_2204-8071delinsTG
ENST00000684196.1:n.4543-8072_4543-8071delinsTG
ENST00000684325.1:c.2186-15882_2186-15881delinsTG	ENSP00000508121.1:n.2186-15882_2186-15881delinsTG
ENST00000684385.1:c.2221-8072_2221-8071delinsTG	ENSP00000507855.1:n.2221-8072_2221-8071delinsTG
ENST00000684497.1:c.2186-14912_2186-14911delinsTG	ENSP00000507057.1:n.2186-14912_2186-14911delinsTG
ENST00000382292.9:c.6320_6321delinsTG MANE Select	ENSP00000371729.3:p.Leu2107=
ENST00000423156.2:c.2186-8072_2186-8071delinsTG	ENSP00000390925.2:n.2186-8072_2186-8071delinsTG
ENST00000455470.6:c.2431+3889_2431+3890delinsTG	ENSP00000406565.2:n.2431+3889_2431+3890delinsTG
ENST00000382292.7:c.6320_6321delinsTG	ENSP00000371729.3:p.Leu2107=
ENST00000382298.7:c.6320_6321delinsTG	ENSP00000371735.3:p.Leu2107=
ENST00000402364.1:c.4070_4071delinsTG	ENSP00000385844.1:p.Leu1357=
ENST00000423156.1:c.1058-8072_1058-8071delinsTG	ENSP00000390925.1:n.1058-8072_1058-8071delinsTG
ENST00000455470.5:c.2129+3889_2129+3890delinsTG
NM_001278055.1:c.5879_5880delinsTG	NP_001264984.1:p.Leu1960=
NM_014363.5:c.6320_6321delinsTG	NP_055178.3:p.Leu2107=
XM_005266338.1:c.6347_6348delinsTG	XP_005266395.1:p.Leu2116=
XM_011535038.1:c.6371_6372delinsTG	XP_011533340.1:p.Leu2124=
XM_011535039.1:c.6338_6339delinsTG	XP_011533341.1:p.Leu2113=
XM_005266338.2:c.6347_6348delinsTG	XP_005266395.1:p.Leu2116=
XM_011535039.2:c.6338_6339delinsTG	XP_011533341.1:p.Leu2113=
XM_017020539.1:c.6311_6312delinsTG	XP_016876028.1:p.Leu2104=
XM_024449337.1:c.6347_6348delinsTG	XP_024305105.1:p.Leu2116=
NM_014363.6:c.6320_6321delinsTG MANE Select	NP_055178.3:p.Leu2107=
NM_001278055.2:c.5879_5880delinsTG	NP_001264984.1:p.Leu1960=