Canonical Allele Identifier: CA2979026043
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840303_102840305del , CM000674.2:g.102840303_102840305del GRCh38
NC_000012.11:g.103234081_103234083del , CM000674.1:g.103234081_103234083del GRCh37
NC_000012.10:g.101758211_101758213del NCBI36
NG_008690.1:g.82298_82300del
NG_008690.2:g.123106_123108del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1315+95_1315+97del MANE Select ENSP00000448059.1:n.1315+95_1315+97del
ENST00000307000.7:c.1300+95_1300+97del ENSP00000303500.2:n.1300+95_1300+97del
ENST00000551114.2:n.977+95_977+97del
ENST00000553106.5:c.1315+95_1315+97del ENSP00000448059.1:n.1315+95_1315+97del
ENST00000635477.1:c.419+95_419+97del
ENST00000635528.1:n.830+95_830+97del
NM_000277.1:c.1315+95_1315+97del NP_000268.1:n.1315+95_1315+97del
XM_011538422.1:c.1258+95_1258+97del XP_011536724.1:n.1258+95_1258+97del
NM_000277.2:c.1315+95_1315+97del NP_000268.1:n.1315+95_1315+97del
NM_001354304.1:c.1315+95_1315+97del NP_001341233.1:n.1315+95_1315+97del
NM_000277.3:c.1315+95_1315+97del MANE Select NP_000268.1:n.1315+95_1315+97del
NM_001354304.2:c.1315+95_1315+97del NP_001341233.1:n.1315+95_1315+97del
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