Canonical Allele Identifier: CA2059443823
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851291_102851292delinsAG , CM000674.2:g.102851291_102851292delinsAG GRCh38
NC_000012.11:g.103245069_103245070delinsAG , CM000674.1:g.103245069_103245070delinsAG GRCh37
NC_000012.10:g.101769199_101769200delinsAG NCBI36
NG_008690.1:g.71311_71312delinsCT
NG_008690.2:g.112119_112120delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.912+395_912+396delinsCT MANE Select ENSP00000448059.1:n.912+395_912+396delins...
ENST00000307000.7:c.897+395_897+396delinsCT ENSP00000303500.2:n.897+395_897+396delins...
ENST00000549247.6:n.671+395_671+396delinsCT
ENST00000551114.2:n.574+395_574+396delinsCT
ENST00000553106.5:c.912+395_912+396delinsCT ENSP00000448059.1:n.912+395_912+396delins...
ENST00000635477.1:c.73+395_73+396delinsCT
NM_000277.1:c.912+395_912+396delinsCT NP_000268.1:n.912+395_912+396delinsCT
XM_011538422.1:c.912+395_912+396delinsCT XP_011536724.1:n.912+395_912+396delinsCT
NM_000277.2:c.912+395_912+396delinsCT NP_000268.1:n.912+395_912+396delinsCT
NM_001354304.1:c.912+395_912+396delinsCT NP_001341233.1:n.912+395_912+396delinsCT
NM_000277.3:c.912+395_912+396delinsCT MANE Select NP_000268.1:n.912+395_912+396delinsCT
NM_001354304.2:c.912+395_912+396delinsCT NP_001341233.1:n.912+395_912+396delinsCT
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