Canonical Allele Identifier: CA2695217161
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855216_102855217insG , CM000674.2:g.102855216_102855217insG GRCh38
NC_000012.11:g.103248994_103248995insG , CM000674.1:g.103248994_103248995insG GRCh37
NC_000012.10:g.101773124_101773125insG NCBI36
NG_008690.1:g.67386_67387insC
NG_008690.2:g.108194_108195insC

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.625_626insC MANE Select ENSP00000448059.1:p.Ile209ThrfsTer6
ENST00000307000.7:c.610_611insC ENSP00000303500.2:p.Ile204ThrfsTer6
ENST00000549111.5:n.721_722insC
ENST00000553106.5:c.625_626insC ENSP00000448059.1:p.Ile209ThrfsTer6
NM_000277.1:c.625_626insC NP_000268.1:p.Ile209ThrfsTer6
XM_011538422.1:c.625_626insC XP_011536724.1:p.Ile209ThrfsTer6
NM_000277.2:c.625_626insC NP_000268.1:p.Ile209ThrfsTer6
NM_001354304.1:c.625_626insC NP_001341233.1:p.Ile209ThrfsTer6
XM_017019370.2:c.625_626insC XP_016874859.1:p.Ile209ThrfsTer6
NM_000277.3:c.625_626insC MANE Select NP_000268.1:p.Ile209ThrfsTer6
NM_001354304.2:c.625_626insC NP_001341233.1:p.Ile209ThrfsTer6
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