Canonical Allele Identifier: CA2843248088
Community Standard Title: NM_000277.3(PAH):c.1165dup (p.Ala389GlyfsTer5)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843681dup , CM000674.2:g.102843681dup GRCh38
NC_000012.11:g.103237459dup , CM000674.1:g.103237459dup GRCh37
NC_000012.10:g.101761589dup NCBI36
NG_008690.1:g.78923dup
NG_008690.2:g.119731dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1165dup MANE Select NP_000268.1:p.Ala389GlyfsTer5
ENST00000553106.6:c.1165dup MANE Select ENSP00000448059.1:p.Ala389GlyfsTer5
NM_000277.1:c.1165dup NP_000268.1:p.Ala389GlyfsTer5
NM_000277.2:c.1165dup NP_000268.1:p.Ala389GlyfsTer5
NM_001354304.1:c.1165dup NP_001341233.1:p.Ala389GlyfsTer5
NM_001354304.2:c.1165dup NP_001341233.1:p.Ala389GlyfsTer5
ENST00000307000.7:c.1150dup ENSP00000303500.2:p.Ala384GlyfsTer5
ENST00000549247.6:n.924dup
ENST00000551114.2:n.827dup
ENST00000553106.5:c.1165dup ENSP00000448059.1:p.Ala389GlyfsTer5
ENST00000635477.1:c.269dup
ENST00000635528.1:n.680dup
XM_011538422.1:c.1108dup XP_011536724.1:p.Ala370GlyfsTer5
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