Canonical Allele Identifier: CA2695201916
Gene: PAPSS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709326_87709330delinsCATAT , CM000672.2:g.87709326_87709330delinsCATAT GRCh38
NC_000010.10:g.89469083_89469087delinsCATAT , CM000672.1:g.89469083_89469087delinsCATAT GRCh37
NC_000010.9:g.89459063_89459067delinsCATAT NCBI36
NG_012150.1:g.54608_54612delinsCATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.145+13_145+17delinsCATAT MANE Select ENSP00000406157.1:n.145+13_145+17delinsCATAT
ENST00000361175.8:c.145+13_145+17delinsCATAT ENSP00000354436.4:n.145+13_145+17delinsCATAT
ENST00000456849.1:c.145+13_145+17delinsCATAT ENSP00000406157.1:n.145+13_145+17delinsCATAT
ENST00000465996.5:n.167+13_167+17delinsCATAT
ENST00000482258.1:n.188+13_188+17delinsCATAT
NM_001015880.1:c.145+13_145+17delinsCATAT NP_001015880.1:n.145+13_145+17delinsCATAT
NM_004670.3:c.145+13_145+17delinsCATAT NP_004661.2:n.145+13_145+17delinsCATAT
NM_001015880.2:c.145+13_145+17delinsCATAT MANE Select NP_001015880.1:n.145+13_145+17delinsCATAT
NM_004670.4:c.145+13_145+17delinsCATAT NP_004661.2:n.145+13_145+17delinsCATAT