Canonical Allele Identifier: CA2059443599
Community Standard Title: NM_000277.3(PAH):c.912+561_912+562delinsAG
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851125_102851126delinsCT , CM000674.2:g.102851125_102851126delinsCT GRCh38
NC_000012.11:g.103244903_103244904delinsCT , CM000674.1:g.103244903_103244904delinsCT GRCh37
NC_000012.10:g.101769033_101769034delinsCT NCBI36
NG_008690.1:g.71477_71478delinsAG
NG_008690.2:g.112285_112286delinsAG

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+561_912+562delinsAG MANE Select NP_000268.1:n.912+561_912+562delinsAG
ENST00000553106.6:c.912+561_912+562delinsAG MANE Select ENSP00000448059.1:n.912+561_912+562delinsAG
NM_000277.1:c.912+561_912+562delinsAG NP_000268.1:n.912+561_912+562delinsAG
NM_000277.2:c.912+561_912+562delinsAG NP_000268.1:n.912+561_912+562delinsAG
NM_001354304.1:c.912+561_912+562delinsAG NP_001341233.1:n.912+561_912+562delinsAG
NM_001354304.2:c.912+561_912+562delinsAG NP_001341233.1:n.912+561_912+562delinsAG
ENST00000307000.7:c.897+561_897+562delinsAG ENSP00000303500.2:n.897+561_897+562delinsAG
ENST00000549247.6:n.671+561_671+562delinsAG
ENST00000551114.2:n.574+561_574+562delinsAG
ENST00000553106.5:c.912+561_912+562delinsAG ENSP00000448059.1:n.912+561_912+562delinsAG
ENST00000635477.1:c.73+561_73+562delinsAG
XM_011538422.1:c.912+561_912+562delinsAG XP_011536724.1:n.912+561_912+562delinsAG
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