Canonical Allele Identifier: CA607156385
Community Standard Title: NM_000277.3(PAH):c.509+386_509+388del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866211_102866213del , CM000674.2:g.102866211_102866213del GRCh38
NC_000012.11:g.103259989_103259991del , CM000674.1:g.103259989_103259991del GRCh37
NC_000012.10:g.101784119_101784121del NCBI36
NG_008690.1:g.56393_56395del
NG_008690.2:g.97201_97203del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+386_509+388del MANE Select NP_000268.1:n.509+386_509+388del
ENST00000553106.6:c.509+386_509+388del MANE Select ENSP00000448059.1:n.509+386_509+388del
NM_000277.1:c.509+386_509+388del NP_000268.1:n.509+386_509+388del
NM_000277.2:c.509+386_509+388del NP_000268.1:n.509+386_509+388del
NM_001354304.1:c.509+386_509+388del NP_001341233.1:n.509+386_509+388del
NM_001354304.2:c.509+386_509+388del NP_001341233.1:n.509+386_509+388del
ENST00000307000.7:c.494+386_494+388del ENSP00000303500.2:n.494+386_494+388del
ENST00000549111.5:n.605+386_605+388del
ENST00000551988.5:n.531-10878_531-10876del
ENST00000553106.5:c.509+386_509+388del ENSP00000448059.1:n.509+386_509+388del
XM_011538422.1:c.509+386_509+388del XP_011536724.1:n.509+386_509+388del
XM_017019370.2:c.509+386_509+388del XP_016874859.1:n.509+386_509+388del
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