Canonical Allele Identifier: CA2695217217
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840396_102840397insGTTACACCT , CM000674.2:g.102840396_102840397insGTTACACCT GRCh38
NC_000012.11:g.103234174_103234175insGTTACACCT , CM000674.1:g.103234174_103234175insGTTACACCT GRCh37
NC_000012.10:g.101758304_101758305insGTTACACCT NCBI36
NG_008690.1:g.82208_82209insGTGTAACAG
NG_008690.2:g.123016_123017insGTGTAACAG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+5_1315+6insGTGTAACAG MANE Select ENSP00000448059.1:n.1315+5_1315+6insGTGTA...
ENST00000307000.7:c.1300+5_1300+6insGTGTAACAG ENSP00000303500.2:n.1300+5_1300+6insGTGTA...
ENST00000551114.2:n.977+5_977+6insGTGTAACAG
ENST00000553106.5:c.1315+5_1315+6insGTGTAACAG ENSP00000448059.1:n.1315+5_1315+6insGTGTA...
ENST00000635477.1:c.419+5_419+6insGTGTAACAG
ENST00000635528.1:n.830+5_830+6insGTGTAACAG
NM_000277.1:c.1315+5_1315+6insGTGTAACAG NP_000268.1:n.1315+5_1315+6insGTGTAACAG
XM_011538422.1:c.1258+5_1258+6insGTGTAACAG XP_011536724.1:n.1258+5_1258+6insGTGTAACA...
NM_000277.2:c.1315+5_1315+6insGTGTAACAG NP_000268.1:n.1315+5_1315+6insGTGTAACAG
NM_001354304.1:c.1315+5_1315+6insGTGTAACAG NP_001341233.1:n.1315+5_1315+6insGTGTAACA...
NM_000277.3:c.1315+5_1315+6insGTGTAACAG MANE Select NP_000268.1:n.1315+5_1315+6insGTGTAACAG
NM_001354304.2:c.1315+5_1315+6insGTGTAACAG NP_001341233.1:n.1315+5_1315+6insGTGTAACA...
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