Canonical Allele Identifier: CA1779760607

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193850_43193855delinsGTTCAT , CM000670.2:g.43193850_43193855delinsGTTCAT	GRCh38
NC_000008.10:g.43048993_43048998delinsGTTCAT , CM000670.1:g.43048993_43048998delinsGTTCAT	GRCh37
NC_000008.9:g.43168150_43168155delinsGTTCAT	NCBI36
NG_009552.1:g.58402_58407delinsGTTCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1464+7_1464+12delinsGTTCAT MANE Select	ENSP00000368965.4:n.1464+7_1464+12delinsGTTCAT
ENST00000379644.8:c.1464+7_1464+12delinsGTTCAT	ENSP00000368965.4:n.1464+7_1464+12delinsGTTCAT
ENST00000520678.1:n.404_409delinsGTTCAT
ENST00000521576.1:c.615+7_615+12delinsGTTCAT	ENSP00000429029.1:n.615+7_615+12delinsGTTCAT
ENST00000524016.5:c.568+7_568+12delinsGTTCAT
NM_152419.2:c.1464+7_1464+12delinsGTTCAT	NP_689632.2:n.1464+7_1464+12delinsGTTCAT
XM_005273409.1:c.1464+7_1464+12delinsGTTCAT	XP_005273466.1:n.1464+7_1464+12delinsGTTCAT
XM_005273410.1:c.1464+7_1464+12delinsGTTCAT	XP_005273467.1:n.1464+7_1464+12delinsGTTCAT
XM_005273411.1:c.1272+7_1272+12delinsGTTCAT	XP_005273468.1:n.1272+7_1272+12delinsGTTCAT
XM_005273412.2:c.1464+7_1464+12delinsGTTCAT	XP_005273469.1:n.1464+7_1464+12delinsGTTCAT
NM_001363227.1:c.1464+7_1464+12delinsGTTCAT	NP_001350156.1:n.1464+7_1464+12delinsGTTCAT
NM_001363228.1:c.1272+7_1272+12delinsGTTCAT	NP_001350157.1:n.1272+7_1272+12delinsGTTCAT
NM_001363229.1:c.600+7_600+12delinsGTTCAT	NP_001350158.1:n.600+7_600+12delinsGTTCAT
XM_005273412.4:c.1464+7_1464+12delinsGTTCAT	XP_005273469.1:n.1464+7_1464+12delinsGTTCAT
NM_152419.3:c.1464+7_1464+12delinsGTTCAT MANE Select	NP_689632.2:n.1464+7_1464+12delinsGTTCAT
NM_001363227.2:c.1464+7_1464+12delinsGTTCAT	NP_001350156.1:n.1464+7_1464+12delinsGTTCAT
NM_001363228.2:c.1272+7_1272+12delinsGTTCAT	NP_001350157.1:n.1272+7_1272+12delinsGTTCAT
NM_001363229.2:c.600+7_600+12delinsGTTCAT	NP_001350158.1:n.600+7_600+12delinsGTTCAT