Canonical Allele Identifier: CA2574602573

Gene: PAPSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87713264_87713269dup , CM000672.2:g.87713264_87713269dup	GRCh38
NC_000010.10:g.89473021_89473026dup , CM000672.1:g.89473021_89473026dup	GRCh37
NC_000010.9:g.89463001_89463006dup	NCBI36
NG_012150.1:g.58546_58551dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.335_340dup MANE Select	ENSP00000406157.1:p.Ala113_Gly114insAspAla
ENST00000361175.8:c.335_340dup	ENSP00000354436.4:p.Ala113_Gly114insAspAla
ENST00000456849.1:c.335_340dup	ENSP00000406157.1:p.Ala113_Gly114insAspAla
ENST00000482258.1:n.378_383dup
NM_001015880.1:c.335_340dup	NP_001015880.1:p.Ala113_Gly114insAspAla
NM_004670.3:c.335_340dup	NP_004661.2:p.Ala113_Gly114insAspAla
NM_001015880.2:c.335_340dup MANE Select	NP_001015880.1:p.Ala113_Gly114insAspAla
NM_004670.4:c.335_340dup	NP_004661.2:p.Ala113_Gly114insAspAla