Canonical Allele Identifier: CA1139660516

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43146979del , CM000670.2:g.43146979del	GRCh38
NC_000008.10:g.43002122del , CM000670.1:g.43002122del	GRCh37
NC_000008.9:g.43121279del	NCBI36
NG_009552.1:g.11531del

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.150del MANE Select	NP_689632.2:p.Met51TrpfsTer17
ENST00000379644.9:c.150del MANE Select	ENSP00000368965.4:p.Met51TrpfsTer17
NM_001363227.1:c.150del	NP_001350156.1:p.Met51TrpfsTer17
NM_001363227.2:c.150del	NP_001350156.1:p.Met51TrpfsTer17
NM_001363228.1:c.150del	NP_001350157.1:p.Met51TrpfsTer17
NM_001363228.2:c.150del	NP_001350157.1:p.Met51TrpfsTer17
NM_001363229.1:c.-684del	NP_001350158.1:n.-684del
NM_001363229.2:c.-684del	NP_001350158.1:n.-684del
NM_152419.2:c.150del	NP_689632.2:p.Met51TrpfsTer17
ENST00000379644.8:c.150del	ENSP00000368965.4:p.Met51TrpfsTer17
ENST00000517319.1:c.150del	ENSP00000430032.1:p.Met51TrpfsTer17
ENST00000520704.1:c.-1del	ENSP00000429109.1:n.-1del
XM_005273409.1:c.150del	XP_005273466.1:p.Met51TrpfsTer17
XM_005273410.1:c.150del	XP_005273467.1:p.Met51TrpfsTer17
XM_005273411.1:c.150del	XP_005273468.1:p.Met51TrpfsTer17
XM_005273412.2:c.150del	XP_005273469.1:p.Met51TrpfsTer17
XM_005273412.4:c.150del	XP_005273469.1:p.Met51TrpfsTer17