Canonical Allele Identifier: CA2687154185

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43197517-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197523_43197524del , CM000670.2:g.43197523_43197524del	GRCh38
NC_000008.10:g.43052666_43052667del , CM000670.1:g.43052666_43052667del	GRCh37
NC_000008.9:g.43171823_43171824del	NCBI36
NG_009552.1:g.62075_62076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1543-149_1543-148del MANE Select	ENSP00000368965.4:n.1543-149_1543-148del
ENST00000379644.8:c.1543-149_1543-148del	ENSP00000368965.4:n.1543-149_1543-148del
ENST00000519705.1:n.859-149_859-148del
ENST00000521576.1:c.694-149_694-148del	ENSP00000429029.1:n.694-149_694-148del
ENST00000523989.1:n.1707_1708del
NM_152419.2:c.1543-149_1543-148del	NP_689632.2:n.1543-149_1543-148del
XM_005273409.1:c.1654-149_1654-148del	XP_005273466.1:n.1654-149_1654-148del
XM_005273410.1:c.1630-149_1630-148del	XP_005273467.1:n.1630-149_1630-148del
XM_005273411.1:c.1462-149_1462-148del	XP_005273468.1:n.1462-149_1462-148del
NM_001363227.1:c.1630-149_1630-148del	NP_001350156.1:n.1630-149_1630-148del
NM_001363228.1:c.1351-149_1351-148del	NP_001350157.1:n.1351-149_1351-148del
NM_001363229.1:c.679-149_679-148del	NP_001350158.1:n.679-149_679-148del
NM_152419.3:c.1543-149_1543-148del MANE Select	NP_689632.2:n.1543-149_1543-148del
NM_001363227.2:c.1630-149_1630-148del	NP_001350156.1:n.1630-149_1630-148del
NM_001363228.2:c.1351-149_1351-148del	NP_001350157.1:n.1351-149_1351-148del
NM_001363229.2:c.679-149_679-148del	NP_001350158.1:n.679-149_679-148del