Canonical Allele Identifier: CA2695217225
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843707del , CM000674.2:g.102843707del GRCh38
NC_000012.11:g.103237485del , CM000674.1:g.103237485del GRCh37
NC_000012.10:g.101761615del NCBI36
NG_008690.1:g.78896del
NG_008690.2:g.119704del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1138del MANE Select ENSP00000448059.1:p.Thr380ArgfsTer20
ENST00000307000.7:c.1123del ENSP00000303500.2:p.Thr375ArgfsTer20
ENST00000549247.6:n.897del
ENST00000551114.2:n.800del
ENST00000553106.5:c.1138del ENSP00000448059.1:p.Thr380ArgfsTer20
ENST00000635477.1:c.242del
ENST00000635528.1:n.653del
NM_000277.1:c.1138del NP_000268.1:p.Thr380ArgfsTer20
XM_011538422.1:c.1081del XP_011536724.1:p.Thr361ArgfsTer20
NM_000277.2:c.1138del NP_000268.1:p.Thr380ArgfsTer20
NM_001354304.1:c.1138del NP_001341233.1:p.Thr380ArgfsTer20
NM_000277.3:c.1138del MANE Select NP_000268.1:p.Thr380ArgfsTer20
NM_001354304.2:c.1138del NP_001341233.1:p.Thr380ArgfsTer20
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