Canonical Allele Identifier: CA2610041977

Gene: PAPSS2

Linked Data

• gnomAD v4: 10-87727552-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87727556_87727557del , CM000672.2:g.87727556_87727557del	GRCh38
NC_000010.10:g.89487313_89487314del , CM000672.1:g.89487313_89487314del	GRCh37
NC_000010.9:g.89477293_89477294del	NCBI36
NG_012150.1:g.72838_72839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.1086+67_1086+68del MANE Select	ENSP00000406157.1:n.1086+67_1086+68del
ENST00000361175.8:c.1071+67_1071+68del	ENSP00000354436.4:n.1071+67_1071+68del
ENST00000456849.1:c.1086+67_1086+68del	ENSP00000406157.1:n.1086+67_1086+68del
NM_001015880.1:c.1086+67_1086+68del	NP_001015880.1:n.1086+67_1086+68del
NM_004670.3:c.1071+67_1071+68del	NP_004661.2:n.1071+67_1071+68del
NM_001015880.2:c.1086+67_1086+68del MANE Select	NP_001015880.1:n.1086+67_1086+68del
NM_004670.4:c.1071+67_1071+68del	NP_004661.2:n.1071+67_1071+68del