Canonical Allele Identifier: CA2695217220
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840470del , CM000674.2:g.102840470del GRCh38
NC_000012.11:g.103234248del , CM000674.1:g.103234248del GRCh37
NC_000012.10:g.101758378del NCBI36
NG_008690.1:g.82135del
NG_008690.2:g.122943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1247del MANE Select ENSP00000448059.1:p.Pro416HisfsTer?
ENST00000307000.7:c.1232del ENSP00000303500.2:p.Pro411HisfsTer?
ENST00000551114.2:n.909del
ENST00000553106.5:c.1247del ENSP00000448059.1:p.Pro416HisfsTer?
ENST00000635477.1:c.351del
ENST00000635528.1:n.762del
NM_000277.1:c.1247del NP_000268.1:p.Pro416HisfsTer?
XM_011538422.1:c.1190del XP_011536724.1:p.Pro397HisfsTer?
NM_000277.2:c.1247del NP_000268.1:p.Pro416HisfsTer?
NM_001354304.1:c.1247del NP_001341233.1:p.Pro416HisfsTer?
NM_000277.3:c.1247del MANE Select NP_000268.1:p.Pro416HisfsTer?
NM_001354304.2:c.1247del NP_001341233.1:p.Pro416HisfsTer?
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