Canonical Allele Identifier: CA2059456855
Community Standard Title: NM_000277.3(PAH):c.509+282_509+283delinsGT
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866313_102866314delinsAC , CM000674.2:g.102866313_102866314delinsAC GRCh38
NC_000012.11:g.103260091_103260092delinsAC , CM000674.1:g.103260091_103260092delinsAC GRCh37
NC_000012.10:g.101784221_101784222delinsAC NCBI36
NG_008690.1:g.56289_56290delinsGT
NG_008690.2:g.97097_97098delinsGT

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+282_509+283delinsGT MANE Select NP_000268.1:n.509+282_509+283delinsGT
ENST00000553106.6:c.509+282_509+283delinsGT MANE Select ENSP00000448059.1:n.509+282_509+283delinsGT
NM_000277.1:c.509+282_509+283delinsGT NP_000268.1:n.509+282_509+283delinsGT
NM_000277.2:c.509+282_509+283delinsGT NP_000268.1:n.509+282_509+283delinsGT
NM_001354304.1:c.509+282_509+283delinsGT NP_001341233.1:n.509+282_509+283delinsGT
NM_001354304.2:c.509+282_509+283delinsGT NP_001341233.1:n.509+282_509+283delinsGT
ENST00000307000.7:c.494+282_494+283delinsGT ENSP00000303500.2:n.494+282_494+283delinsGT
ENST00000549111.5:n.605+282_605+283delinsGT
ENST00000551988.5:n.531-10982_531-10981delinsGT
ENST00000553106.5:c.509+282_509+283delinsGT ENSP00000448059.1:n.509+282_509+283delinsGT
XM_011538422.1:c.509+282_509+283delinsGT XP_011536724.1:n.509+282_509+283delinsGT
XM_017019370.2:c.509+282_509+283delinsGT XP_016874859.1:n.509+282_509+283delinsGT
Search 100 bp 5'
Search 100 bp 3'