Canonical Allele Identifier: CA2687155629

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43182024-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182029_43182030del , CM000670.2:g.43182029_43182030del	GRCh38
NC_000008.10:g.43037172_43037173del , CM000670.1:g.43037172_43037173del	GRCh37
NC_000008.9:g.43156329_43156330del	NCBI36
NG_009552.1:g.46581_46582del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1013-116_1013-115del MANE Select	ENSP00000368965.4:n.1013-116_1013-115del
ENST00000379644.8:c.1013-116_1013-115del	ENSP00000368965.4:n.1013-116_1013-115del
ENST00000519000.1:n.383_384del
ENST00000521576.1:c.164-116_164-115del	ENSP00000429029.1:n.164-116_164-115del
ENST00000522082.5:c.254-116_254-115del	ENSP00000430151.1:n.254-116_254-115del
ENST00000524016.5:c.117-116_117-115del
NM_152419.2:c.1013-116_1013-115del	NP_689632.2:n.1013-116_1013-115del
XM_005273409.1:c.1013-116_1013-115del	XP_005273466.1:n.1013-116_1013-115del
XM_005273410.1:c.1013-116_1013-115del	XP_005273467.1:n.1013-116_1013-115del
XM_005273411.1:c.821-116_821-115del	XP_005273468.1:n.821-116_821-115del
XM_005273412.2:c.1013-116_1013-115del	XP_005273469.1:n.1013-116_1013-115del
NM_001363227.1:c.1013-116_1013-115del	NP_001350156.1:n.1013-116_1013-115del
NM_001363228.1:c.821-116_821-115del	NP_001350157.1:n.821-116_821-115del
NM_001363229.1:c.149-116_149-115del	NP_001350158.1:n.149-116_149-115del
XM_005273412.4:c.1013-116_1013-115del	XP_005273469.1:n.1013-116_1013-115del
NM_152419.3:c.1013-116_1013-115del MANE Select	NP_689632.2:n.1013-116_1013-115del
NM_001363227.2:c.1013-116_1013-115del	NP_001350156.1:n.1013-116_1013-115del
NM_001363228.2:c.821-116_821-115del	NP_001350157.1:n.821-116_821-115del
NM_001363229.2:c.149-116_149-115del	NP_001350158.1:n.149-116_149-115del