Canonical Allele Identifier: CA951234438
Community Standard Title: NM_000277.3(PAH):c.912+632_912+636del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851056_102851060del , CM000674.2:g.102851056_102851060del GRCh38
NC_000012.11:g.103244834_103244838del , CM000674.1:g.103244834_103244838del GRCh37
NC_000012.10:g.101768964_101768968del NCBI36
NG_008690.1:g.71548_71552del
NG_008690.2:g.112356_112360del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+632_912+636del MANE Select NP_000268.1:n.912+632_912+636del
ENST00000553106.6:c.912+632_912+636del MANE Select ENSP00000448059.1:n.912+632_912+636del
NM_000277.1:c.912+632_912+636del NP_000268.1:n.912+632_912+636del
NM_000277.2:c.912+632_912+636del NP_000268.1:n.912+632_912+636del
NM_001354304.1:c.912+632_912+636del NP_001341233.1:n.912+632_912+636del
NM_001354304.2:c.912+632_912+636del NP_001341233.1:n.912+632_912+636del
ENST00000307000.7:c.897+632_897+636del ENSP00000303500.2:n.897+632_897+636del
ENST00000549247.6:n.671+632_671+636del
ENST00000551114.2:n.574+632_574+636del
ENST00000553106.5:c.912+632_912+636del ENSP00000448059.1:n.912+632_912+636del
ENST00000635477.1:c.73+632_73+636del
XM_011538422.1:c.912+632_912+636del XP_011536724.1:n.912+632_912+636del
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