Canonical Allele Identifier: CA2059443595
Community Standard Title: NM_000277.3(PAH):c.912+563_912+564delinsCT
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851123_102851124delinsAG , CM000674.2:g.102851123_102851124delinsAG GRCh38
NC_000012.11:g.103244901_103244902delinsAG , CM000674.1:g.103244901_103244902delinsAG GRCh37
NC_000012.10:g.101769031_101769032delinsAG NCBI36
NG_008690.1:g.71479_71480delinsCT
NG_008690.2:g.112287_112288delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+563_912+564delinsCT MANE Select NP_000268.1:n.912+563_912+564delinsCT
ENST00000553106.6:c.912+563_912+564delinsCT MANE Select ENSP00000448059.1:n.912+563_912+564delinsCT
NM_000277.1:c.912+563_912+564delinsCT NP_000268.1:n.912+563_912+564delinsCT
NM_000277.2:c.912+563_912+564delinsCT NP_000268.1:n.912+563_912+564delinsCT
NM_001354304.1:c.912+563_912+564delinsCT NP_001341233.1:n.912+563_912+564delinsCT
NM_001354304.2:c.912+563_912+564delinsCT NP_001341233.1:n.912+563_912+564delinsCT
ENST00000307000.7:c.897+563_897+564delinsCT ENSP00000303500.2:n.897+563_897+564delinsCT
ENST00000549247.6:n.671+563_671+564delinsCT
ENST00000551114.2:n.574+563_574+564delinsCT
ENST00000553106.5:c.912+563_912+564delinsCT ENSP00000448059.1:n.912+563_912+564delinsCT
ENST00000635477.1:c.73+563_73+564delinsCT
XM_011538422.1:c.912+563_912+564delinsCT XP_011536724.1:n.912+563_912+564delinsCT
Search 100 bp 5'
Search 100 bp 3'