Canonical Allele Identifier: CA607156386
Community Standard Title: NM_000277.3(PAH):c.509+364_509+365del
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866234_102866235del , CM000674.2:g.102866234_102866235del GRCh38
NC_000012.11:g.103260012_103260013del , CM000674.1:g.103260012_103260013del GRCh37
NC_000012.10:g.101784142_101784143del NCBI36
NG_008690.1:g.56371_56372del
NG_008690.2:g.97179_97180del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+364_509+365del MANE Select NP_000268.1:n.509+364_509+365del
ENST00000553106.6:c.509+364_509+365del MANE Select ENSP00000448059.1:n.509+364_509+365del
NM_000277.1:c.509+364_509+365del NP_000268.1:n.509+364_509+365del
NM_000277.2:c.509+364_509+365del NP_000268.1:n.509+364_509+365del
NM_001354304.1:c.509+364_509+365del NP_001341233.1:n.509+364_509+365del
NM_001354304.2:c.509+364_509+365del NP_001341233.1:n.509+364_509+365del
ENST00000307000.7:c.494+364_494+365del ENSP00000303500.2:n.494+364_494+365del
ENST00000549111.5:n.605+364_605+365del
ENST00000551988.5:n.531-10900_531-10899del
ENST00000553106.5:c.509+364_509+365del ENSP00000448059.1:n.509+364_509+365del
XM_011538422.1:c.509+364_509+365del XP_011536724.1:n.509+364_509+365del
XM_017019370.2:c.509+364_509+365del XP_016874859.1:n.509+364_509+365del
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