Canonical Allele Identifier: CA2059456888
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866400_102866410delinsTTTATCATGTG , CM000674.2:g.102866400_102866410delinsTTTATCATGTG GRCh38
NC_000012.11:g.103260178_103260188delinsTTTATCATGTG , CM000674.1:g.103260178_103260188delinsTTTATCATGTG GRCh37
NC_000012.10:g.101784308_101784318delinsTTTATCATGTG NCBI36
NG_008690.1:g.56193_56203delinsCACATGATAAA
NG_008690.2:g.97001_97011delinsCACATGATAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+186_509+196delinsCACATGATAAA MANE Select ENSP00000448059.1:n.509+186_509+196delins...
ENST00000307000.7:c.494+186_494+196delinsCACATGATAAA ENSP00000303500.2:n.494+186_494+196delins...
ENST00000549111.5:n.605+186_605+196delinsCACATGATAAA
ENST00000551988.5:n.530+11052_530+11062delinsCACATGATAAA
ENST00000553106.5:c.509+186_509+196delinsCACATGATAAA ENSP00000448059.1:n.509+186_509+196delins...
NM_000277.1:c.509+186_509+196delinsCACATGATAAA NP_000268.1:n.509+186_509+196delinsCACATG...
XM_011538422.1:c.509+186_509+196delinsCACATGATAAA XP_011536724.1:n.509+186_509+196delinsCAC...
NM_000277.2:c.509+186_509+196delinsCACATGATAAA NP_000268.1:n.509+186_509+196delinsCACATG...
NM_001354304.1:c.509+186_509+196delinsCACATGATAAA NP_001341233.1:n.509+186_509+196delinsCAC...
XM_017019370.2:c.509+186_509+196delinsCACATGATAAA XP_016874859.1:n.509+186_509+196delinsCAC...
NM_000277.3:c.509+186_509+196delinsCACATGATAAA MANE Select NP_000268.1:n.509+186_509+196delinsCACATG...
NM_001354304.2:c.509+186_509+196delinsCACATGATAAA NP_001341233.1:n.509+186_509+196delinsCAC...
Search 100 bp 5'
Search 100 bp 3'