Canonical Allele Identifier: CA1779774323

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1804144896
• gnomAD v4: 8-43182081-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182085_43182087del , CM000670.2:g.43182085_43182087del	GRCh38
NC_000008.10:g.43037228_43037230del , CM000670.1:g.43037228_43037230del	GRCh37
NC_000008.9:g.43156385_43156387del	NCBI36
NG_009552.1:g.46637_46639del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1013-60_1013-58del MANE Select	ENSP00000368965.4:n.1013-60_1013-58del
ENST00000379644.8:c.1013-60_1013-58del	ENSP00000368965.4:n.1013-60_1013-58del
ENST00000519000.1:n.439_441del
ENST00000521576.1:c.164-60_164-58del	ENSP00000429029.1:n.164-60_164-58del
ENST00000522082.5:c.254-60_254-58del	ENSP00000430151.1:n.254-60_254-58del
ENST00000524016.5:c.117-60_117-58del
NM_152419.2:c.1013-60_1013-58del	NP_689632.2:n.1013-60_1013-58del
XM_005273409.1:c.1013-60_1013-58del	XP_005273466.1:n.1013-60_1013-58del
XM_005273410.1:c.1013-60_1013-58del	XP_005273467.1:n.1013-60_1013-58del
XM_005273411.1:c.821-60_821-58del	XP_005273468.1:n.821-60_821-58del
XM_005273412.2:c.1013-60_1013-58del	XP_005273469.1:n.1013-60_1013-58del
NM_001363227.1:c.1013-60_1013-58del	NP_001350156.1:n.1013-60_1013-58del
NM_001363228.1:c.821-60_821-58del	NP_001350157.1:n.821-60_821-58del
NM_001363229.1:c.149-60_149-58del	NP_001350158.1:n.149-60_149-58del
XM_005273412.4:c.1013-60_1013-58del	XP_005273469.1:n.1013-60_1013-58del
NM_152419.3:c.1013-60_1013-58del MANE Select	NP_689632.2:n.1013-60_1013-58del
NM_001363227.2:c.1013-60_1013-58del	NP_001350156.1:n.1013-60_1013-58del
NM_001363228.2:c.821-60_821-58del	NP_001350157.1:n.821-60_821-58del
NM_001363229.2:c.149-60_149-58del	NP_001350158.1:n.149-60_149-58del