Canonical Allele Identifier: CA2059449357
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855209_102855210delinsTG , CM000674.2:g.102855209_102855210delinsTG GRCh38
NC_000012.11:g.103248987_103248988delinsTG , CM000674.1:g.103248987_103248988delinsTG GRCh37
NC_000012.10:g.101773117_101773118delinsTG NCBI36
NG_008690.1:g.67393_67394delinsCA
NG_008690.2:g.108201_108202delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.632_633delinsCA MANE Select ENSP00000448059.1:p.Pro211=
ENST00000307000.7:c.617_618delinsCA ENSP00000303500.2:p.Pro206=
ENST00000549111.5:n.728_729delinsCA
ENST00000553106.5:c.632_633delinsCA ENSP00000448059.1:p.Pro211=
NM_000277.1:c.632_633delinsCA NP_000268.1:p.Pro211=
XM_011538422.1:c.632_633delinsCA XP_011536724.1:p.Pro211=
NM_000277.2:c.632_633delinsCA NP_000268.1:p.Pro211=
NM_001354304.1:c.632_633delinsCA NP_001341233.1:p.Pro211=
XM_017019370.2:c.632_633delinsCA XP_016874859.1:p.Pro211=
NM_000277.3:c.632_633delinsCA MANE Select NP_000268.1:p.Pro211=
NM_001354304.2:c.632_633delinsCA NP_001341233.1:p.Pro211=
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