Canonical Allele Identifier: CA2059457001
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866641_102866642delinsCG , CM000674.2:g.102866641_102866642delinsCG GRCh38
NC_000012.11:g.103260419_103260420delinsCG , CM000674.1:g.103260419_103260420delinsCG GRCh37
NC_000012.10:g.101784549_101784550delinsCG NCBI36
NG_008690.1:g.55961_55962delinsCG
NG_008690.2:g.96769_96770delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.463_464delinsCG MANE Select ENSP00000448059.1:p.Arg155=
ENST00000307000.7:c.448_449delinsCG ENSP00000303500.2:p.Arg150=
ENST00000549111.5:n.559_560delinsCG
ENST00000551988.5:n.530+10820_530+10821delinsCG
ENST00000553106.5:c.463_464delinsCG ENSP00000448059.1:p.Arg155=
NM_000277.1:c.463_464delinsCG NP_000268.1:p.Arg155=
XM_011538422.1:c.463_464delinsCG XP_011536724.1:p.Arg155=
NM_000277.2:c.463_464delinsCG NP_000268.1:p.Arg155=
NM_001354304.1:c.463_464delinsCG NP_001341233.1:p.Arg155=
XM_017019370.2:c.463_464delinsCG XP_016874859.1:p.Arg155=
NM_000277.3:c.463_464delinsCG MANE Select NP_000268.1:p.Arg155=
NM_001354304.2:c.463_464delinsCG NP_001341233.1:p.Arg155=
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