Canonical Allele Identifier: CA1779759978

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192400_43192401delinsCG , CM000670.2:g.43192400_43192401delinsCG	GRCh38
NC_000008.10:g.43047543_43047544delinsCG , CM000670.1:g.43047543_43047544delinsCG	GRCh37
NC_000008.9:g.43166700_43166701delinsCG	NCBI36
NG_009552.1:g.56952_56953delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1347_1348delinsCG MANE Select	ENSP00000368965.4:p.Asp449=
ENST00000379644.8:c.1347_1348delinsCG	ENSP00000368965.4:p.Asp449=
ENST00000520678.1:n.280_281delinsCG
ENST00000521576.1:c.498_499delinsCG	ENSP00000429029.1:p.Asp166=
ENST00000524016.5:c.451_452delinsCG
NM_152419.2:c.1347_1348delinsCG	NP_689632.2:p.Asp449=
XM_005273409.1:c.1347_1348delinsCG	XP_005273466.1:p.Asp449=
XM_005273410.1:c.1347_1348delinsCG	XP_005273467.1:p.Asp449=
XM_005273411.1:c.1155_1156delinsCG	XP_005273468.1:p.Asp385=
XM_005273412.2:c.1347_1348delinsCG	XP_005273469.1:p.Asp449=
NM_001363227.1:c.1347_1348delinsCG	NP_001350156.1:p.Asp449=
NM_001363228.1:c.1155_1156delinsCG	NP_001350157.1:p.Asp385=
NM_001363229.1:c.483_484delinsCG	NP_001350158.1:p.Asp161=
XM_005273412.4:c.1347_1348delinsCG	XP_005273469.1:p.Asp449=
NM_152419.3:c.1347_1348delinsCG MANE Select	NP_689632.2:p.Asp449=
NM_001363227.2:c.1347_1348delinsCG	NP_001350156.1:p.Asp449=
NM_001363228.2:c.1155_1156delinsCG	NP_001350157.1:p.Asp385=
NM_001363229.2:c.483_484delinsCG	NP_001350158.1:p.Asp161=