Canonical Allele Identifier: CA2695217179
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917072delinsGG , CM000674.2:g.102917072delinsGG GRCh38
NC_000012.11:g.103310850delinsGG , CM000674.1:g.103310850delinsGG GRCh37
NC_000012.10:g.101834980delinsGG NCBI36
NG_008690.1:g.5531delinsCC
NG_008690.2:g.46339delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.59delinsCC MANE Select ENSP00000448059.1:p.Gln20ProfsTer7
ENST00000307000.7:c.-89delinsCC ENSP00000303500.2:n.-89delinsCC
ENST00000546844.1:c.59delinsCC ENSP00000446658.1:p.Gln20ProfsTer7
ENST00000547319.1:n.370delinsCC
ENST00000549111.5:n.155delinsCC
ENST00000550978.6:c.43delinsCC
ENST00000551337.5:c.59delinsCC ENSP00000447620.1:p.Gln20ProfsTer7
ENST00000551988.5:n.148delinsCC
ENST00000553106.5:c.59delinsCC ENSP00000448059.1:p.Gln20ProfsTer7
ENST00000635500.1:n.29-4174delinsCC
NM_000277.1:c.59delinsCC NP_000268.1:p.Gln20ProfsTer7
XM_011538422.1:c.59delinsCC XP_011536724.1:p.Gln20ProfsTer7
NM_000277.2:c.59delinsCC NP_000268.1:p.Gln20ProfsTer7
NM_001354304.1:c.59delinsCC NP_001341233.1:p.Gln20ProfsTer7
XM_017019370.2:c.59delinsCC XP_016874859.1:p.Gln20ProfsTer7
NM_000277.3:c.59delinsCC MANE Select NP_000268.1:p.Gln20ProfsTer7
NM_001354304.2:c.59delinsCC NP_001341233.1:p.Gln20ProfsTer7
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