Canonical Allele Identifier: CA2695217165
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855298_102855302del , CM000674.2:g.102855298_102855302del GRCh38
NC_000012.11:g.103249076_103249080del , CM000674.1:g.103249076_103249080del GRCh37
NC_000012.10:g.101773206_101773210del NCBI36
NG_008690.1:g.67301_67305del
NG_008690.2:g.108109_108113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.540_544del MANE Select ENSP00000448059.1:p.Met180IlefsTer18
ENST00000307000.7:c.525_529del ENSP00000303500.2:p.Met175IlefsTer18
ENST00000549111.5:n.636_640del
ENST00000551988.5:n.561_565del
ENST00000553106.5:c.540_544del ENSP00000448059.1:p.Met180IlefsTer18
NM_000277.1:c.540_544del NP_000268.1:p.Met180IlefsTer18
XM_011538422.1:c.540_544del XP_011536724.1:p.Met180IlefsTer18
NM_000277.2:c.540_544del NP_000268.1:p.Met180IlefsTer18
NM_001354304.1:c.540_544del NP_001341233.1:p.Met180IlefsTer18
XM_017019370.2:c.540_544del XP_016874859.1:p.Met180IlefsTer18
NM_000277.3:c.540_544del MANE Select NP_000268.1:p.Met180IlefsTer18
NM_001354304.2:c.540_544del NP_001341233.1:p.Met180IlefsTer18
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