Canonical Allele Identifier: CA1779760566

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193764_43193766delinsACC , CM000670.2:g.43193764_43193766delinsACC	GRCh38
NC_000008.10:g.43048907_43048909delinsACC , CM000670.1:g.43048907_43048909delinsACC	GRCh37
NC_000008.9:g.43168064_43168066delinsACC	NCBI36
NG_009552.1:g.58316_58318delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1385_1387delinsACC MANE Select	ENSP00000368965.4:p.Tyr462=
ENST00000379644.8:c.1385_1387delinsACC	ENSP00000368965.4:p.Tyr462=
ENST00000520678.1:n.318_320delinsACC
ENST00000521576.1:c.536_538delinsACC	ENSP00000429029.1:p.Tyr179=
ENST00000524016.5:c.489_491delinsACC
NM_152419.2:c.1385_1387delinsACC	NP_689632.2:p.Tyr462=
XM_005273409.1:c.1385_1387delinsACC	XP_005273466.1:p.Tyr462=
XM_005273410.1:c.1385_1387delinsACC	XP_005273467.1:p.Tyr462=
XM_005273411.1:c.1193_1195delinsACC	XP_005273468.1:p.Tyr398=
XM_005273412.2:c.1385_1387delinsACC	XP_005273469.1:p.Tyr462=
NM_001363227.1:c.1385_1387delinsACC	NP_001350156.1:p.Tyr462=
NM_001363228.1:c.1193_1195delinsACC	NP_001350157.1:p.Tyr398=
NM_001363229.1:c.521_523delinsACC	NP_001350158.1:p.Tyr174=
XM_005273412.4:c.1385_1387delinsACC	XP_005273469.1:p.Tyr462=
NM_152419.3:c.1385_1387delinsACC MANE Select	NP_689632.2:p.Tyr462=
NM_001363227.2:c.1385_1387delinsACC	NP_001350156.1:p.Tyr462=
NM_001363228.2:c.1193_1195delinsACC	NP_001350157.1:p.Tyr398=
NM_001363229.2:c.521_523delinsACC	NP_001350158.1:p.Tyr174=