Canonical Allele Identifier: CA581633174

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43140527_43140541del , CM000670.2:g.43140527_43140541del	GRCh38
NC_000008.10:g.42995670_42995684del , CM000670.1:g.42995670_42995684del	GRCh37
NC_000008.9:g.43114827_43114841del	NCBI36
NG_009552.1:g.5079_5093del

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.31_45del MANE Select	NP_689632.2:p.Leu11_Ala15del
ENST00000379644.9:c.31_45del MANE Select	ENSP00000368965.4:p.Leu11_Ala15del
NM_001363227.1:c.31_45del	NP_001350156.1:p.Leu11_Ala15del
NM_001363227.2:c.31_45del	NP_001350156.1:p.Leu11_Ala15del
NM_001363228.1:c.31_45del	NP_001350157.1:p.Leu11_Ala15del
NM_001363228.2:c.31_45del	NP_001350157.1:p.Leu11_Ala15del
NM_001363229.1:c.-803_-789del	NP_001350158.1:n.-803_-789del
NM_001363229.2:c.-803_-789del	NP_001350158.1:n.-803_-789del
NM_152419.2:c.31_45del	NP_689632.2:p.Leu11_Ala15del
ENST00000379644.8:c.31_45del	ENSP00000368965.4:p.Leu11_Ala15del
ENST00000517319.1:c.31_45del	ENSP00000430032.1:p.Leu11_Ala15del
ENST00000520704.1:c.-120_-106del	ENSP00000429109.1:n.-120_-106del
XM_005273409.1:c.31_45del	XP_005273466.1:p.Leu11_Ala15del
XM_005273410.1:c.31_45del	XP_005273467.1:p.Leu11_Ala15del
XM_005273411.1:c.31_45del	XP_005273468.1:p.Leu11_Ala15del
XM_005273412.2:c.31_45del	XP_005273469.1:p.Leu11_Ala15del
XM_005273412.4:c.31_45del	XP_005273469.1:p.Leu11_Ala15del