Canonical Allele Identifier: CA1779760563

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193760_43193761delinsCT , CM000670.2:g.43193760_43193761delinsCT	GRCh38
NC_000008.10:g.43048903_43048904delinsCT , CM000670.1:g.43048903_43048904delinsCT	GRCh37
NC_000008.9:g.43168060_43168061delinsCT	NCBI36
NG_009552.1:g.58312_58313delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1381_1382delinsCT MANE Select	ENSP00000368965.4:p.Leu461=
ENST00000379644.8:c.1381_1382delinsCT	ENSP00000368965.4:p.Leu461=
ENST00000520678.1:n.314_315delinsCT
ENST00000521576.1:c.532_533delinsCT	ENSP00000429029.1:p.Leu178=
ENST00000524016.5:c.485_486delinsCT
NM_152419.2:c.1381_1382delinsCT	NP_689632.2:p.Leu461=
XM_005273409.1:c.1381_1382delinsCT	XP_005273466.1:p.Leu461=
XM_005273410.1:c.1381_1382delinsCT	XP_005273467.1:p.Leu461=
XM_005273411.1:c.1189_1190delinsCT	XP_005273468.1:p.Leu397=
XM_005273412.2:c.1381_1382delinsCT	XP_005273469.1:p.Leu461=
NM_001363227.1:c.1381_1382delinsCT	NP_001350156.1:p.Leu461=
NM_001363228.1:c.1189_1190delinsCT	NP_001350157.1:p.Leu397=
NM_001363229.1:c.517_518delinsCT	NP_001350158.1:p.Leu173=
XM_005273412.4:c.1381_1382delinsCT	XP_005273469.1:p.Leu461=
NM_152419.3:c.1381_1382delinsCT MANE Select	NP_689632.2:p.Leu461=
NM_001363227.2:c.1381_1382delinsCT	NP_001350156.1:p.Leu461=
NM_001363228.2:c.1189_1190delinsCT	NP_001350157.1:p.Leu397=
NM_001363229.2:c.517_518delinsCT	NP_001350158.1:p.Leu173=