Canonical Allele Identifier: CA2620510598
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917222-C-CCCTAGT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917222_102917223insCCTAGT , CM000674.2:g.102917222_102917223insCCTAGT GRCh38
NC_000012.11:g.103311000_103311001insCCTAGT , CM000674.1:g.103311000_103311001insCCTAGT GRCh37
NC_000012.10:g.101835130_101835131insCCTAGT NCBI36
NG_008690.1:g.5380_5381insACTAGG
NG_008690.2:g.46188_46189insACTAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-93_-92insACTAGG MANE Select ENSP00000448059.1:n.-93_-92insACTAGG
ENST00000307000.7:c.-240_-239insACTAGG ENSP00000303500.2:n.-240_-239insACTAGG
ENST00000546708.5:n.495_496insACTAGG
ENST00000546844.1:c.-93_-92insACTAGG ENSP00000446658.1:n.-93_-92insACTAGG
ENST00000547319.1:n.219_220insACTAGG
ENST00000549111.5:n.4_5insACTAGG
ENST00000551337.5:c.-93_-92insACTAGG ENSP00000447620.1:n.-93_-92insACTAGG
ENST00000553106.5:c.-93_-92insACTAGG ENSP00000448059.1:n.-93_-92insACTAGG
ENST00000635500.1:n.29-4325_29-4324insACTAGG
NM_000277.1:c.-93_-92insACTAGG NP_000268.1:n.-93_-92insACTAGG
XM_011538422.1:c.-93_-92insACTAGG XP_011536724.1:n.-93_-92insACTAGG
NM_000277.2:c.-93_-92insACTAGG NP_000268.1:n.-93_-92insACTAGG
NM_001354304.1:c.-93_-92insACTAGG NP_001341233.1:n.-93_-92insACTAGG
XM_017019370.2:c.-93_-92insACTAGG XP_016874859.1:n.-93_-92insACTAGG
NM_000277.3:c.-93_-92insACTAGG MANE Select NP_000268.1:n.-93_-92insACTAGG
NM_001354304.2:c.-93_-92insACTAGG NP_001341233.1:n.-93_-92insACTAGG
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