Canonical Allele Identifier: CA607154285
Community Standard Title: NM_000277.3(PAH):c.912+586_912+587insC
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851100_102851101insG , CM000674.2:g.102851100_102851101insG GRCh38
NC_000012.11:g.103244878_103244879insG , CM000674.1:g.103244878_103244879insG GRCh37
NC_000012.10:g.101769008_101769009insG NCBI36
NG_008690.1:g.71502_71503insC
NG_008690.2:g.112310_112311insC

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+586_912+587insC MANE Select NP_000268.1:n.912+586_912+587insC
ENST00000553106.6:c.912+586_912+587insC MANE Select ENSP00000448059.1:n.912+586_912+587insC
NM_000277.1:c.912+586_912+587insC NP_000268.1:n.912+586_912+587insC
NM_000277.2:c.912+586_912+587insC NP_000268.1:n.912+586_912+587insC
NM_001354304.1:c.912+586_912+587insC NP_001341233.1:n.912+586_912+587insC
NM_001354304.2:c.912+586_912+587insC NP_001341233.1:n.912+586_912+587insC
ENST00000307000.7:c.897+586_897+587insC ENSP00000303500.2:n.897+586_897+587insC
ENST00000549247.6:n.671+586_671+587insC
ENST00000551114.2:n.574+586_574+587insC
ENST00000553106.5:c.912+586_912+587insC ENSP00000448059.1:n.912+586_912+587insC
ENST00000635477.1:c.73+586_73+587insC
XM_011538422.1:c.912+586_912+587insC XP_011536724.1:n.912+586_912+587insC
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