Canonical Allele Identifier: CA130422
Community Standard Title: NM_001015880.2(PAPSS2):c.477_480dup (p.Lys161ArgfsTer6)
Gene: PAPSS2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87714139_87714142dup , CM000672.2:g.87714139_87714142dup GRCh38
NC_000010.10:g.89473896_89473899dup , CM000672.1:g.89473896_89473899dup GRCh37
NC_000010.9:g.89463876_89463879dup NCBI36
NG_012150.1:g.59421_59424dup

Transcript Alleles

HGVS Amino-acid Change
NM_001015880.2:c.477_480dup MANE Select NP_001015880.1:p.Lys161ArgfsTer6
ENST00000456849.2:c.477_480dup MANE Select ENSP00000406157.1:p.Lys161ArgfsTer6
NM_001015880.1:c.477_480dup NP_001015880.1:p.Lys161ArgfsTer6
NM_004670.3:c.477_480dup NP_004661.2:p.Lys161ArgfsTer6
NM_004670.4:c.477_480dup NP_004661.2:p.Lys161ArgfsTer6
ENST00000361175.8:c.477_480dup ENSP00000354436.4:p.Lys161ArgfsTer6
ENST00000456849.1:c.477_480dup ENSP00000406157.1:p.Lys161ArgfsTer6
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