Canonical Allele Identifier: CA2059451418
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846931_102846933delinsCAG , CM000674.2:g.102846931_102846933delinsCAG GRCh38
NC_000012.11:g.103240709_103240711delinsCAG , CM000674.1:g.103240709_103240711delinsCAG GRCh37
NC_000012.10:g.101764839_101764841delinsCAG NCBI36
NG_008690.1:g.75670_75672delinsCTG
NG_008690.2:g.116478_116480delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.931_933delinsCTG MANE Select ENSP00000448059.1:p.Leu311=
ENST00000307000.7:c.916_918delinsCTG ENSP00000303500.2:p.Leu306=
ENST00000549247.6:n.690_692delinsCTG
ENST00000551114.2:n.593_595delinsCTG
ENST00000553106.5:c.931_933delinsCTG ENSP00000448059.1:p.Leu311=
ENST00000635477.1:c.74-2502_74-2500delinsCTG
ENST00000635528.1:n.446_448delinsCTG
NM_000277.1:c.931_933delinsCTG NP_000268.1:p.Leu311=
XM_011538422.1:c.913-2502_913-2500delinsCTG XP_011536724.1:n.913-2502_913-2500delinsCTG
NM_000277.2:c.931_933delinsCTG NP_000268.1:p.Leu311=
NM_001354304.1:c.931_933delinsCTG NP_001341233.1:p.Leu311=
NM_000277.3:c.931_933delinsCTG MANE Select NP_000268.1:p.Leu311=
NM_001354304.2:c.931_933delinsCTG NP_001341233.1:p.Leu311=
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