Canonical Allele Identifier: CA1779760570

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193769_43193771delinsACC , CM000670.2:g.43193769_43193771delinsACC	GRCh38
NC_000008.10:g.43048912_43048914delinsACC , CM000670.1:g.43048912_43048914delinsACC	GRCh37
NC_000008.9:g.43168069_43168071delinsACC	NCBI36
NG_009552.1:g.58321_58323delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1390_1392delinsACC MANE Select	ENSP00000368965.4:p.Thr464=
ENST00000379644.8:c.1390_1392delinsACC	ENSP00000368965.4:p.Thr464=
ENST00000520678.1:n.323_325delinsACC
ENST00000521576.1:c.541_543delinsACC	ENSP00000429029.1:p.Thr181=
ENST00000524016.5:c.494_496delinsACC
NM_152419.2:c.1390_1392delinsACC	NP_689632.2:p.Thr464=
XM_005273409.1:c.1390_1392delinsACC	XP_005273466.1:p.Thr464=
XM_005273410.1:c.1390_1392delinsACC	XP_005273467.1:p.Thr464=
XM_005273411.1:c.1198_1200delinsACC	XP_005273468.1:p.Thr400=
XM_005273412.2:c.1390_1392delinsACC	XP_005273469.1:p.Thr464=
NM_001363227.1:c.1390_1392delinsACC	NP_001350156.1:p.Thr464=
NM_001363228.1:c.1198_1200delinsACC	NP_001350157.1:p.Thr400=
NM_001363229.1:c.526_528delinsACC	NP_001350158.1:p.Thr176=
XM_005273412.4:c.1390_1392delinsACC	XP_005273469.1:p.Thr464=
NM_152419.3:c.1390_1392delinsACC MANE Select	NP_689632.2:p.Thr464=
NM_001363227.2:c.1390_1392delinsACC	NP_001350156.1:p.Thr464=
NM_001363228.2:c.1198_1200delinsACC	NP_001350157.1:p.Thr400=
NM_001363229.2:c.526_528delinsACC	NP_001350158.1:p.Thr176=