Canonical Allele Identifier: CA2078625974

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336669_23336671delinsCAA , CM000675.2:g.23336669_23336671delinsCAA	GRCh38
NC_000013.10:g.23910808_23910810delinsCAA , CM000675.1:g.23910808_23910810delinsCAA	GRCh37
NC_000013.9:g.22808808_22808810delinsCAA	NCBI36
NG_012342.1:g.102032_102034delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17114_2185+17116delinsTTG	ENSP00000508399.1:n.2185+17114_2185+17116delinsTTG
ENST00000682944.1:c.7232_7234delinsTTG	ENSP00000507173.1:p.Leu2411=
ENST00000683210.1:c.2185+17114_2185+17116delinsTTG	ENSP00000506739.1:n.2185+17114_2185+17116delinsTTG
ENST00000683270.1:c.6445+751_6445+753delinsTTG	ENSP00000507624.1:n.6445+751_6445+753delinsTTG
ENST00000683367.1:c.2177-7187_2177-7185delinsTTG	ENSP00000507780.1:n.2177-7187_2177-7185delinsTTG
ENST00000683489.1:c.2291+4914_2291+4916delinsTTG	ENSP00000508403.1:n.2291+4914_2291+4916delinsTTG
ENST00000683680.1:c.2318+4914_2318+4916delinsTTG	ENSP00000507223.1:n.2318+4914_2318+4916delinsTTG
ENST00000684163.1:c.2204-7187_2204-7185delinsTTG	ENSP00000508262.1:n.2204-7187_2204-7185delinsTTG
ENST00000684196.1:n.4543-7187_4543-7185delinsTTG
ENST00000684325.1:c.2186-14997_2186-14995delinsTTG	ENSP00000508121.1:n.2186-14997_2186-14995delinsTTG
ENST00000684385.1:c.2221-7187_2221-7185delinsTTG	ENSP00000507855.1:n.2221-7187_2221-7185delinsTTG
ENST00000684497.1:c.2186-14027_2186-14025delinsTTG	ENSP00000507057.1:n.2186-14027_2186-14025delinsTTG
ENST00000382292.9:c.7205_7207delinsTTG MANE Select	ENSP00000371729.3:p.Leu2402=
ENST00000423156.2:c.2186-7187_2186-7185delinsTTG	ENSP00000390925.2:n.2186-7187_2186-7185delinsTTG
ENST00000455470.6:c.2431+4774_2431+4776delinsTTG	ENSP00000406565.2:n.2431+4774_2431+4776delinsTTG
ENST00000382292.7:c.7205_7207delinsTTG	ENSP00000371729.3:p.Leu2402=
ENST00000382298.7:c.7205_7207delinsTTG	ENSP00000371735.3:p.Leu2402=
ENST00000402364.1:c.4955_4957delinsTTG	ENSP00000385844.1:p.Leu1652=
ENST00000423156.1:c.1058-7187_1058-7185delinsTTG	ENSP00000390925.1:n.1058-7187_1058-7185delinsTTG
ENST00000455470.5:c.2129+4774_2129+4776delinsTTG
NM_001278055.1:c.6764_6766delinsTTG	NP_001264984.1:p.Leu2255=
NM_014363.5:c.7205_7207delinsTTG	NP_055178.3:p.Leu2402=
XM_005266338.1:c.7232_7234delinsTTG	XP_005266395.1:p.Leu2411=
XM_011535038.1:c.7256_7258delinsTTG	XP_011533340.1:p.Leu2419=
XM_011535039.1:c.7223_7225delinsTTG	XP_011533341.1:p.Leu2408=
XM_005266338.2:c.7232_7234delinsTTG	XP_005266395.1:p.Leu2411=
XM_011535039.2:c.7223_7225delinsTTG	XP_011533341.1:p.Leu2408=
XM_017020539.1:c.7196_7198delinsTTG	XP_016876028.1:p.Leu2399=
XM_024449337.1:c.7232_7234delinsTTG	XP_024305105.1:p.Leu2411=
NM_014363.6:c.7205_7207delinsTTG MANE Select	NP_055178.3:p.Leu2402=
NM_001278055.2:c.6764_6766delinsTTG	NP_001264984.1:p.Leu2255=