Canonical Allele Identifier: CA2059466607
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894768_102894777delinsGGACAGTGGC , CM000674.2:g.102894768_102894777delinsGGACAGTGGC GRCh38
NC_000012.11:g.103288546_103288555delinsGGACAGTGGC , CM000674.1:g.103288546_103288555delinsGGACAGTGGC GRCh37
NC_000012.10:g.101812676_101812685delinsGGACAGTGGC NCBI36
NG_008690.1:g.27826_27835delinsGCCACTGTCC
NG_008690.2:g.68634_68643delinsGCCACTGTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.310_319delinsGCCACTGTCC MANE Select ENSP00000448059.1:p.Ala104=
ENST00000307000.7:c.295_304delinsGCCACTGTCC ENSP00000303500.2:p.Ala99=
ENST00000546844.1:c.310_319delinsGCCACTGTCC ENSP00000446658.1:p.Ala104=
ENST00000548928.1:n.232_241delinsGCCACTGTCC
ENST00000549111.5:n.406_415delinsGCCACTGTCC
ENST00000550978.6:c.294_303delinsGCCACTGTCC
ENST00000551337.5:c.310_319delinsGCCACTGTCC ENSP00000447620.1:p.Ala104=
ENST00000551988.5:n.399_408delinsGCCACTGTCC
ENST00000553106.5:c.310_319delinsGCCACTGTCC ENSP00000448059.1:p.Ala104=
NM_000277.1:c.310_319delinsGCCACTGTCC NP_000268.1:p.Ala104=
XM_011538422.1:c.310_319delinsGCCACTGTCC XP_011536724.1:p.Ala104=
NM_000277.2:c.310_319delinsGCCACTGTCC NP_000268.1:p.Ala104=
NM_001354304.1:c.310_319delinsGCCACTGTCC NP_001341233.1:p.Ala104=
XM_017019370.2:c.310_319delinsGCCACTGTCC XP_016874859.1:p.Ala104=
NM_000277.3:c.310_319delinsGCCACTGTCC MANE Select NP_000268.1:p.Ala104=
NM_001354304.2:c.310_319delinsGCCACTGTCC NP_001341233.1:p.Ala104=
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