Canonical Allele Identifier: CA2059456811
Community Standard Title: NM_000277.3(PAH):c.509+364_509+366delinsAAG
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866230_102866232delinsCTT , CM000674.2:g.102866230_102866232delinsCTT GRCh38
NC_000012.11:g.103260008_103260010delinsCTT , CM000674.1:g.103260008_103260010delinsCTT GRCh37
NC_000012.10:g.101784138_101784140delinsCTT NCBI36
NG_008690.1:g.56371_56373delinsAAG
NG_008690.2:g.97179_97181delinsAAG

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+364_509+366delinsAAG MANE Select NP_000268.1:n.509+364_509+366delinsAAG
ENST00000553106.6:c.509+364_509+366delinsAAG MANE Select ENSP00000448059.1:n.509+364_509+366delinsAAG
NM_000277.1:c.509+364_509+366delinsAAG NP_000268.1:n.509+364_509+366delinsAAG
NM_000277.2:c.509+364_509+366delinsAAG NP_000268.1:n.509+364_509+366delinsAAG
NM_001354304.1:c.509+364_509+366delinsAAG NP_001341233.1:n.509+364_509+366delinsAAG
NM_001354304.2:c.509+364_509+366delinsAAG NP_001341233.1:n.509+364_509+366delinsAAG
ENST00000307000.7:c.494+364_494+366delinsAAG ENSP00000303500.2:n.494+364_494+366delinsAAG
ENST00000549111.5:n.605+364_605+366delinsAAG
ENST00000551988.5:n.531-10900_531-10898delinsAAG
ENST00000553106.5:c.509+364_509+366delinsAAG ENSP00000448059.1:n.509+364_509+366delinsAAG
XM_011538422.1:c.509+364_509+366delinsAAG XP_011536724.1:n.509+364_509+366delinsAAG
XM_017019370.2:c.509+364_509+366delinsAAG XP_016874859.1:n.509+364_509+366delinsAAG
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