Canonical Allele Identifier: CA2059445919
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843368_102843369delinsCT , CM000674.2:g.102843368_102843369delinsCT GRCh38
NC_000012.11:g.103237146_103237147delinsCT , CM000674.1:g.103237146_103237147delinsCT GRCh37
NC_000012.10:g.101761276_101761277delinsCT NCBI36
NG_008690.1:g.79234_79235delinsAG
NG_008690.2:g.120042_120043delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+277_1199+278delinsAG MANE Select ENSP00000448059.1:n.1199+277_1199+278delinsAG
ENST00000307000.7:c.1184+277_1184+278delinsAG ENSP00000303500.2:n.1184+277_1184+278delinsAG
ENST00000549247.6:n.958+277_958+278delinsAG
ENST00000551114.2:n.861+277_861+278delinsAG
ENST00000553106.5:c.1199+277_1199+278delinsAG ENSP00000448059.1:n.1199+277_1199+278delinsAG
ENST00000635477.1:c.303+277_303+278delinsAG
ENST00000635528.1:n.714+277_714+278delinsAG
NM_000277.1:c.1199+277_1199+278delinsAG NP_000268.1:n.1199+277_1199+278delinsAG
XM_011538422.1:c.1142+277_1142+278delinsAG XP_011536724.1:n.1142+277_1142+278delinsAG
NM_000277.2:c.1199+277_1199+278delinsAG NP_000268.1:n.1199+277_1199+278delinsAG
NM_001354304.1:c.1199+277_1199+278delinsAG NP_001341233.1:n.1199+277_1199+278delinsAG
NM_000277.3:c.1199+277_1199+278delinsAG MANE Select NP_000268.1:n.1199+277_1199+278delinsAG
NM_001354304.2:c.1199+277_1199+278delinsAG NP_001341233.1:n.1199+277_1199+278delinsAG
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