Canonical Allele Identifier: CA2059449231
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855176_102855178delinsATC , CM000674.2:g.102855176_102855178delinsATC GRCh38
NC_000012.11:g.103248954_103248956delinsATC , CM000674.1:g.103248954_103248956delinsATC GRCh37
NC_000012.10:g.101773084_101773086delinsATC NCBI36
NG_008690.1:g.67425_67427delinsGAT
NG_008690.2:g.108233_108235delinsGAT

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.664_666delinsGAT MANE Select ENSP00000448059.1:p.Asp222=
ENST00000307000.7:c.649_651delinsGAT ENSP00000303500.2:p.Asp217=
ENST00000549111.5:n.760_762delinsGAT
ENST00000553106.5:c.664_666delinsGAT ENSP00000448059.1:p.Asp222=
NM_000277.1:c.664_666delinsGAT NP_000268.1:p.Asp222=
XM_011538422.1:c.664_666delinsGAT XP_011536724.1:p.Asp222=
NM_000277.2:c.664_666delinsGAT NP_000268.1:p.Asp222=
NM_001354304.1:c.664_666delinsGAT NP_001341233.1:p.Asp222=
XM_017019370.2:c.664_666delinsGAT XP_016874859.1:p.Asp222=
NM_000277.3:c.664_666delinsGAT MANE Select NP_000268.1:p.Asp222=
NM_001354304.2:c.664_666delinsGAT NP_001341233.1:p.Asp222=
Search 100 bp 5'
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