Canonical Allele Identifier: CA2838031884

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43140533_43140535dup , CM000670.2:g.43140533_43140535dup	GRCh38
NC_000008.10:g.42995676_42995678dup , CM000670.1:g.42995676_42995678dup	GRCh37
NC_000008.9:g.43114833_43114835dup	NCBI36
NG_009552.1:g.5085_5087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.37_39dup MANE Select	ENSP00000368965.4:p.Leu13_Ala14insLeu
ENST00000379644.8:c.37_39dup	ENSP00000368965.4:p.Leu13_Ala14insLeu
ENST00000517319.1:c.37_39dup	ENSP00000430032.1:p.Leu13_Ala14insLeu
ENST00000520704.1:c.-114_-112dup	ENSP00000429109.1:n.-114_-112dup
NM_152419.2:c.37_39dup	NP_689632.2:p.Leu13_Ala14insLeu
XM_005273409.1:c.37_39dup	XP_005273466.1:p.Leu13_Ala14insLeu
XM_005273410.1:c.37_39dup	XP_005273467.1:p.Leu13_Ala14insLeu
XM_005273411.1:c.37_39dup	XP_005273468.1:p.Leu13_Ala14insLeu
XM_005273412.2:c.37_39dup	XP_005273469.1:p.Leu13_Ala14insLeu
NM_001363227.1:c.37_39dup	NP_001350156.1:p.Leu13_Ala14insLeu
NM_001363228.1:c.37_39dup	NP_001350157.1:p.Leu13_Ala14insLeu
NM_001363229.1:c.-797_-795dup	NP_001350158.1:n.-797_-795dup
XM_005273412.4:c.37_39dup	XP_005273469.1:p.Leu13_Ala14insLeu
NM_152419.3:c.37_39dup MANE Select	NP_689632.2:p.Leu13_Ala14insLeu
NM_001363227.2:c.37_39dup	NP_001350156.1:p.Leu13_Ala14insLeu
NM_001363228.2:c.37_39dup	NP_001350157.1:p.Leu13_Ala14insLeu
NM_001363229.2:c.-797_-795dup	NP_001350158.1:n.-797_-795dup