Canonical Allele Identifier: CA2979027346
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852891_102852892del , CM000674.2:g.102852891_102852892del GRCh38
NC_000012.11:g.103246669_103246670del , CM000674.1:g.103246669_103246670del GRCh37
NC_000012.10:g.101770799_101770800del NCBI36
NG_008690.1:g.69712_69713del
NG_008690.2:g.110520_110521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.766_767del MANE Select ENSP00000448059.1:p.Gly256TrpfsTer26
ENST00000307000.7:c.751_752del ENSP00000303500.2:p.Gly251TrpfsTer26
ENST00000549247.6:n.525_526del
ENST00000553106.5:c.766_767del ENSP00000448059.1:p.Gly256TrpfsTer26
NM_000277.1:c.766_767del NP_000268.1:p.Gly256TrpfsTer26
XM_011538422.1:c.766_767del XP_011536724.1:p.Gly256TrpfsTer26
NM_000277.2:c.766_767del NP_000268.1:p.Gly256TrpfsTer26
NM_001354304.1:c.766_767del NP_001341233.1:p.Gly256TrpfsTer26
NM_000277.3:c.766_767del MANE Select NP_000268.1:p.Gly256TrpfsTer26
NM_001354304.2:c.766_767del NP_001341233.1:p.Gly256TrpfsTer26
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