Canonical Allele Identifier: CA2979027053
Community Standard Title: NM_000277.3(PAH):c.509+361_509+362insG
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866234_102866235insC , CM000674.2:g.102866234_102866235insC GRCh38
NC_000012.11:g.103260012_103260013insC , CM000674.1:g.103260012_103260013insC GRCh37
NC_000012.10:g.101784142_101784143insC NCBI36
NG_008690.1:g.56368_56369insG
NG_008690.2:g.97176_97177insG

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+361_509+362insG MANE Select NP_000268.1:n.509+361_509+362insG
ENST00000553106.6:c.509+361_509+362insG MANE Select ENSP00000448059.1:n.509+361_509+362insG
NM_000277.1:c.509+361_509+362insG NP_000268.1:n.509+361_509+362insG
NM_000277.2:c.509+361_509+362insG NP_000268.1:n.509+361_509+362insG
NM_001354304.1:c.509+361_509+362insG NP_001341233.1:n.509+361_509+362insG
NM_001354304.2:c.509+361_509+362insG NP_001341233.1:n.509+361_509+362insG
ENST00000307000.7:c.494+361_494+362insG ENSP00000303500.2:n.494+361_494+362insG
ENST00000549111.5:n.605+361_605+362insG
ENST00000551988.5:n.531-10903_531-10902insG
ENST00000553106.5:c.509+361_509+362insG ENSP00000448059.1:n.509+361_509+362insG
XM_011538422.1:c.509+361_509+362insG XP_011536724.1:n.509+361_509+362insG
XM_017019370.2:c.509+361_509+362insG XP_016874859.1:n.509+361_509+362insG
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