Canonical Allele Identifier: CA2059456806
Community Standard Title: NM_000277.3(PAH):c.509+368_509+370delinsGAA
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866226_102866228delinsTTC , CM000674.2:g.102866226_102866228delinsTTC GRCh38
NC_000012.11:g.103260004_103260006delinsTTC , CM000674.1:g.103260004_103260006delinsTTC GRCh37
NC_000012.10:g.101784134_101784136delinsTTC NCBI36
NG_008690.1:g.56375_56377delinsGAA
NG_008690.2:g.97183_97185delinsGAA

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+368_509+370delinsGAA MANE Select NP_000268.1:n.509+368_509+370delinsGAA
ENST00000553106.6:c.509+368_509+370delinsGAA MANE Select ENSP00000448059.1:n.509+368_509+370delinsGAA
NM_000277.1:c.509+368_509+370delinsGAA NP_000268.1:n.509+368_509+370delinsGAA
NM_000277.2:c.509+368_509+370delinsGAA NP_000268.1:n.509+368_509+370delinsGAA
NM_001354304.1:c.509+368_509+370delinsGAA NP_001341233.1:n.509+368_509+370delinsGAA
NM_001354304.2:c.509+368_509+370delinsGAA NP_001341233.1:n.509+368_509+370delinsGAA
ENST00000307000.7:c.494+368_494+370delinsGAA ENSP00000303500.2:n.494+368_494+370delinsGAA
ENST00000549111.5:n.605+368_605+370delinsGAA
ENST00000551988.5:n.531-10896_531-10894delinsGAA
ENST00000553106.5:c.509+368_509+370delinsGAA ENSP00000448059.1:n.509+368_509+370delinsGAA
XM_011538422.1:c.509+368_509+370delinsGAA XP_011536724.1:n.509+368_509+370delinsGAA
XM_017019370.2:c.509+368_509+370delinsGAA XP_016874859.1:n.509+368_509+370delinsGAA
Search 100 bp 5'
Search 100 bp 3'