Canonical Allele Identifier: CA2979026906
Community Standard Title: NM_000277.3(PAH):c.509+503_509+504insGTTTT
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866095_102866096insACAAA , CM000674.2:g.102866095_102866096insACAAA GRCh38
NC_000012.11:g.103259873_103259874insACAAA , CM000674.1:g.103259873_103259874insACAAA GRCh37
NC_000012.10:g.101784003_101784004insACAAA NCBI36
NG_008690.1:g.56510_56511insGTTTT
NG_008690.2:g.97318_97319insGTTTT

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+503_509+504insGTTTT MANE Select NP_000268.1:n.509+503_509+504insGTTTT
ENST00000553106.6:c.509+503_509+504insGTTTT MANE Select ENSP00000448059.1:n.509+503_509+504insGTTTT
NM_000277.1:c.509+503_509+504insGTTTT NP_000268.1:n.509+503_509+504insGTTTT
NM_000277.2:c.509+503_509+504insGTTTT NP_000268.1:n.509+503_509+504insGTTTT
NM_001354304.1:c.509+503_509+504insGTTTT NP_001341233.1:n.509+503_509+504insGTTTT
NM_001354304.2:c.509+503_509+504insGTTTT NP_001341233.1:n.509+503_509+504insGTTTT
ENST00000307000.7:c.494+503_494+504insGTTTT ENSP00000303500.2:n.494+503_494+504insGTTTT
ENST00000549111.5:n.605+503_605+504insGTTTT
ENST00000551988.5:n.531-10761_531-10760insGTTTT
ENST00000553106.5:c.509+503_509+504insGTTTT ENSP00000448059.1:n.509+503_509+504insGTTTT
XM_011538422.1:c.509+503_509+504insGTTTT XP_011536724.1:n.509+503_509+504insGTTTT
XM_017019370.2:c.509+503_509+504insGTTTT XP_016874859.1:n.509+503_509+504insGTTTT
Search 100 bp 5'
Search 100 bp 3'