Canonical Allele Identifier: CA2610034507

Gene: PAPSS2

Linked Data

• gnomAD v4: 10-87709326-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87709327del , CM000672.2:g.87709327del	GRCh38
NC_000010.10:g.89469084del , CM000672.1:g.89469084del	GRCh37
NC_000010.9:g.89459064del	NCBI36
NG_012150.1:g.54609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.145+14del MANE Select	ENSP00000406157.1:n.145+14del
ENST00000361175.8:c.145+14del	ENSP00000354436.4:n.145+14del
ENST00000456849.1:c.145+14del	ENSP00000406157.1:n.145+14del
ENST00000465996.5:n.167+14del
ENST00000482258.1:n.188+14del
NM_001015880.1:c.145+14del	NP_001015880.1:n.145+14del
NM_004670.3:c.145+14del	NP_004661.2:n.145+14del
NM_001015880.2:c.145+14del MANE Select	NP_001015880.1:n.145+14del
NM_004670.4:c.145+14del	NP_004661.2:n.145+14del