Canonical Allele Identifier: CA930899708
Gene: PAPSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1853675945
gnomAD v3: 10-87727543-AAAAT-A
gnomAD v4: 10-87727543-AAAAT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727546_87727549del , CM000672.2:g.87727546_87727549del GRCh38
NC_000010.10:g.89487303_89487306del , CM000672.1:g.89487303_89487306del GRCh37
NC_000010.9:g.89477283_89477286del NCBI36
NG_012150.1:g.72828_72831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.1086+57_1086+60del MANE Select ENSP00000406157.1:n.1086+57_1086+60del
ENST00000361175.8:c.1071+57_1071+60del ENSP00000354436.4:n.1071+57_1071+60del
ENST00000456849.1:c.1086+57_1086+60del ENSP00000406157.1:n.1086+57_1086+60del
NM_001015880.1:c.1086+57_1086+60del NP_001015880.1:n.1086+57_1086+60del
NM_004670.3:c.1071+57_1071+60del NP_004661.2:n.1071+57_1071+60del
NM_001015880.2:c.1086+57_1086+60del MANE Select NP_001015880.1:n.1086+57_1086+60del
NM_004670.4:c.1071+57_1071+60del NP_004661.2:n.1071+57_1071+60del
Search 100 bp 5'
Search 100 bp 3'