Canonical Allele Identifier: CA2797243293
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102853177_102853178insACG , CM000674.2:g.102853177_102853178insACG GRCh38
NC_000012.11:g.103246955_103246956insACG , CM000674.1:g.103246955_103246956insACG GRCh37
NC_000012.10:g.101771085_101771086insACG NCBI36
NG_008690.1:g.69425_69426insCGT
NG_008690.2:g.110233_110234insCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-228_707-227insCGT MANE Select ENSP00000448059.1:n.707-228_707-227insCGT
ENST00000307000.7:c.692-228_692-227insCGT ENSP00000303500.2:n.692-228_692-227insCGT
ENST00000549247.6:n.238_239insCGT
ENST00000553106.5:c.707-228_707-227insCGT ENSP00000448059.1:n.707-228_707-227insCGT
NM_000277.1:c.707-228_707-227insCGT NP_000268.1:n.707-228_707-227insCGT
XM_011538422.1:c.707-228_707-227insCGT XP_011536724.1:n.707-228_707-227insCGT
NM_000277.2:c.707-228_707-227insCGT NP_000268.1:n.707-228_707-227insCGT
NM_001354304.1:c.707-228_707-227insCGT NP_001341233.1:n.707-228_707-227insCGT
NM_000277.3:c.707-228_707-227insCGT MANE Select NP_000268.1:n.707-228_707-227insCGT
NM_001354304.2:c.707-228_707-227insCGT NP_001341233.1:n.707-228_707-227insCGT
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