Canonical Allele Identifier: CA2059456975
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866601_102866602delinsGT , CM000674.2:g.102866601_102866602delinsGT GRCh38
NC_000012.11:g.103260379_103260380delinsGT , CM000674.1:g.103260379_103260380delinsGT GRCh37
NC_000012.10:g.101784509_101784510delinsGT NCBI36
NG_008690.1:g.56001_56002delinsAC
NG_008690.2:g.96809_96810delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.503_504delinsAC MANE Select ENSP00000448059.1:p.Tyr168=
ENST00000307000.7:c.488_489delinsAC ENSP00000303500.2:p.Tyr163=
ENST00000549111.5:n.599_600delinsAC
ENST00000551988.5:n.530+10860_530+10861delinsAC
ENST00000553106.5:c.503_504delinsAC ENSP00000448059.1:p.Tyr168=
NM_000277.1:c.503_504delinsAC NP_000268.1:p.Tyr168=
XM_011538422.1:c.503_504delinsAC XP_011536724.1:p.Tyr168=
NM_000277.2:c.503_504delinsAC NP_000268.1:p.Tyr168=
NM_001354304.1:c.503_504delinsAC NP_001341233.1:p.Tyr168=
XM_017019370.2:c.503_504delinsAC XP_016874859.1:p.Tyr168=
NM_000277.3:c.503_504delinsAC MANE Select NP_000268.1:p.Tyr168=
NM_001354304.2:c.503_504delinsAC NP_001341233.1:p.Tyr168=
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