Canonical Allele Identifier: CA2695217223
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843674_102843676delinsCCC , CM000674.2:g.102843674_102843676delinsCCC GRCh38
NC_000012.11:g.103237452_103237454delinsCCC , CM000674.1:g.103237452_103237454delinsCCC GRCh37
NC_000012.10:g.101761582_101761584delinsCCC NCBI36
NG_008690.1:g.78927_78929delinsGGG
NG_008690.2:g.119735_119737delinsGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1169_1171delinsGGG MANE Select ENSP00000448059.1:p.Glu390_Ser391delinsGlyGly
ENST00000307000.7:c.1154_1156delinsGGG ENSP00000303500.2:p.Glu385_Ser386delinsGlyGly
ENST00000549247.6:n.928_930delinsGGG
ENST00000551114.2:n.831_833delinsGGG
ENST00000553106.5:c.1169_1171delinsGGG ENSP00000448059.1:p.Glu390_Ser391delinsGlyGly
ENST00000635477.1:c.273_275delinsGGG
ENST00000635528.1:n.684_686delinsGGG
NM_000277.1:c.1169_1171delinsGGG NP_000268.1:p.Glu390_Ser391delinsGlyGly
XM_011538422.1:c.1112_1114delinsGGG XP_011536724.1:p.Glu371_Ser372delinsGlyGly
NM_000277.2:c.1169_1171delinsGGG NP_000268.1:p.Glu390_Ser391delinsGlyGly
NM_001354304.1:c.1169_1171delinsGGG NP_001341233.1:p.Glu390_Ser391delinsGlyGly
NM_000277.3:c.1169_1171delinsGGG MANE Select NP_000268.1:p.Glu390_Ser391delinsGlyGly
NM_001354304.2:c.1169_1171delinsGGG NP_001341233.1:p.Glu390_Ser391delinsGlyGly
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