Canonical Allele Identifier: CA3267343378
Community Standard Title: NM_000277.3(PAH):c.527_692dup (p.Gln232SerfsTer23)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855152_102855317dup , CM000674.2:g.102855152_102855317dup GRCh38
NC_000012.11:g.103248930_103249095dup , CM000674.1:g.103248930_103249095dup GRCh37
NC_000012.10:g.101773060_101773225dup NCBI36
NG_008690.1:g.67288_67453dup
NG_008690.2:g.108096_108261dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.527_692dup MANE Select NP_000268.1:p.Gln232SerfsTer23
ENST00000553106.6:c.527_692dup MANE Select ENSP00000448059.1:p.Gln232SerfsTer23
NM_000277.1:c.527_692dup NP_000268.1:p.Gln232SerfsTer23
NM_000277.2:c.527_692dup NP_000268.1:p.Gln232SerfsTer23
NM_001354304.1:c.527_692dup NP_001341233.1:p.Gln232SerfsTer23
NM_001354304.2:c.527_692dup NP_001341233.1:p.Gln232SerfsTer23
ENST00000307000.7:c.512_677dup ENSP00000303500.2:p.Gln227SerfsTer23
ENST00000549111.5:n.623_788dup
ENST00000553106.5:c.527_692dup ENSP00000448059.1:p.Gln232SerfsTer23
XM_011538422.1:c.527_692dup XP_011536724.1:p.Gln232SerfsTer23
XM_017019370.2:c.527_692dup XP_016874859.1:p.Gln232SerfsTer23
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