Canonical Allele Identifier: CA607154284
Community Standard Title: NM_000277.3(PAH):c.912+587_912+588insC
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851099_102851100insG , CM000674.2:g.102851099_102851100insG GRCh38
NC_000012.11:g.103244877_103244878insG , CM000674.1:g.103244877_103244878insG GRCh37
NC_000012.10:g.101769007_101769008insG NCBI36
NG_008690.1:g.71503_71504insC
NG_008690.2:g.112311_112312insC

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+587_912+588insC MANE Select NP_000268.1:n.912+587_912+588insC
ENST00000553106.6:c.912+587_912+588insC MANE Select ENSP00000448059.1:n.912+587_912+588insC
NM_000277.1:c.912+587_912+588insC NP_000268.1:n.912+587_912+588insC
NM_000277.2:c.912+587_912+588insC NP_000268.1:n.912+587_912+588insC
NM_001354304.1:c.912+587_912+588insC NP_001341233.1:n.912+587_912+588insC
NM_001354304.2:c.912+587_912+588insC NP_001341233.1:n.912+587_912+588insC
ENST00000307000.7:c.897+587_897+588insC ENSP00000303500.2:n.897+587_897+588insC
ENST00000549247.6:n.671+587_671+588insC
ENST00000551114.2:n.574+587_574+588insC
ENST00000553106.5:c.912+587_912+588insC ENSP00000448059.1:n.912+587_912+588insC
ENST00000635477.1:c.73+587_73+588insC
XM_011538422.1:c.912+587_912+588insC XP_011536724.1:n.912+587_912+588insC
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