Canonical Allele Identifier: CA2059447774
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844253_102844254delinsGT , CM000674.2:g.102844253_102844254delinsGT GRCh38
NC_000012.11:g.103238031_103238032delinsGT , CM000674.1:g.103238031_103238032delinsGT GRCh37
NC_000012.10:g.101762161_101762162delinsGT NCBI36
NG_008690.1:g.78349_78350delinsAC
NG_008690.2:g.119157_119158delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1065+82_1065+83delinsAC MANE Select ENSP00000448059.1:n.1065+82_1065+83delinsAC
ENST00000307000.7:c.1050+82_1050+83delinsAC ENSP00000303500.2:n.1050+82_1050+83delinsAC
ENST00000549247.6:n.824+82_824+83delinsAC
ENST00000551114.2:n.727+82_727+83delinsAC
ENST00000553106.5:c.1065+82_1065+83delinsAC ENSP00000448059.1:n.1065+82_1065+83delinsAC
ENST00000635477.1:c.169+82_169+83delinsAC
ENST00000635528.1:n.580+82_580+83delinsAC
NM_000277.1:c.1065+82_1065+83delinsAC NP_000268.1:n.1065+82_1065+83delinsAC
XM_011538422.1:c.1008+82_1008+83delinsAC XP_011536724.1:n.1008+82_1008+83delinsAC
NM_000277.2:c.1065+82_1065+83delinsAC NP_000268.1:n.1065+82_1065+83delinsAC
NM_001354304.1:c.1065+82_1065+83delinsAC NP_001341233.1:n.1065+82_1065+83delinsAC
NM_000277.3:c.1065+82_1065+83delinsAC MANE Select NP_000268.1:n.1065+82_1065+83delinsAC
NM_001354304.2:c.1065+82_1065+83delinsAC NP_001341233.1:n.1065+82_1065+83delinsAC
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