Canonical Allele Identifier: CA2059443561
Community Standard Title: NM_000277.3(PAH):c.912+577_912+579delinsTTC
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851108_102851110delinsGAA , CM000674.2:g.102851108_102851110delinsGAA GRCh38
NC_000012.11:g.103244886_103244888delinsGAA , CM000674.1:g.103244886_103244888delinsGAA GRCh37
NC_000012.10:g.101769016_101769018delinsGAA NCBI36
NG_008690.1:g.71493_71495delinsTTC
NG_008690.2:g.112301_112303delinsTTC

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+577_912+579delinsTTC MANE Select NP_000268.1:n.912+577_912+579delinsTTC
ENST00000553106.6:c.912+577_912+579delinsTTC MANE Select ENSP00000448059.1:n.912+577_912+579delinsTTC
NM_000277.1:c.912+577_912+579delinsTTC NP_000268.1:n.912+577_912+579delinsTTC
NM_000277.2:c.912+577_912+579delinsTTC NP_000268.1:n.912+577_912+579delinsTTC
NM_001354304.1:c.912+577_912+579delinsTTC NP_001341233.1:n.912+577_912+579delinsTTC
NM_001354304.2:c.912+577_912+579delinsTTC NP_001341233.1:n.912+577_912+579delinsTTC
ENST00000307000.7:c.897+577_897+579delinsTTC ENSP00000303500.2:n.897+577_897+579delinsTTC
ENST00000549247.6:n.671+577_671+579delinsTTC
ENST00000551114.2:n.574+577_574+579delinsTTC
ENST00000553106.5:c.912+577_912+579delinsTTC ENSP00000448059.1:n.912+577_912+579delinsTTC
ENST00000635477.1:c.73+577_73+579delinsTTC
XM_011538422.1:c.912+577_912+579delinsTTC XP_011536724.1:n.912+577_912+579delinsTTC
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