Canonical Allele Identifier: CA2059441282
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840349_102840350delinsGT , CM000674.2:g.102840349_102840350delinsGT GRCh38
NC_000012.11:g.103234127_103234128delinsGT , CM000674.1:g.103234127_103234128delinsGT GRCh37
NC_000012.10:g.101758257_101758258delinsGT NCBI36
NG_008690.1:g.82253_82254delinsAC
NG_008690.2:g.123061_123062delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+50_1315+51delinsAC MANE Select ENSP00000448059.1:n.1315+50_1315+51delins...
ENST00000307000.7:c.1300+50_1300+51delinsAC ENSP00000303500.2:n.1300+50_1300+51delins...
ENST00000551114.2:n.977+50_977+51delinsAC
ENST00000553106.5:c.1315+50_1315+51delinsAC ENSP00000448059.1:n.1315+50_1315+51delins...
ENST00000635477.1:c.419+50_419+51delinsAC
ENST00000635528.1:n.830+50_830+51delinsAC
NM_000277.1:c.1315+50_1315+51delinsAC NP_000268.1:n.1315+50_1315+51delinsAC
XM_011538422.1:c.1258+50_1258+51delinsAC XP_011536724.1:n.1258+50_1258+51delinsAC
NM_000277.2:c.1315+50_1315+51delinsAC NP_000268.1:n.1315+50_1315+51delinsAC
NM_001354304.1:c.1315+50_1315+51delinsAC NP_001341233.1:n.1315+50_1315+51delinsAC
NM_000277.3:c.1315+50_1315+51delinsAC MANE Select NP_000268.1:n.1315+50_1315+51delinsAC
NM_001354304.2:c.1315+50_1315+51delinsAC NP_001341233.1:n.1315+50_1315+51delinsAC
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