Canonical Allele Identifier: CA16020776
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102877544-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877545del , CM000674.2:g.102877545del GRCh38
NC_000012.11:g.103271323del , CM000674.1:g.103271323del GRCh37
NC_000012.10:g.101795453del NCBI36
NG_008690.1:g.45058del
NG_008690.2:g.85866del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.358del MANE Select ENSP00000448059.1:p.Trp120GlyfsTer?
ENST00000307000.7:c.343del ENSP00000303500.2:p.Trp115GlyfsTer?
ENST00000549111.5:n.454del
ENST00000550978.6:c.342del
ENST00000551337.5:c.358del ENSP00000447620.1:p.Trp120GlyfsTer?
ENST00000551988.5:n.447del
ENST00000553106.5:c.358del ENSP00000448059.1:p.Trp120GlyfsTer?
NM_000277.1:c.358del NP_000268.1:p.Trp120GlyfsTer?
XM_011538422.1:c.358del XP_011536724.1:p.Trp120GlyfsTer?
NM_000277.2:c.358del NP_000268.1:p.Trp120GlyfsTer?
NM_001354304.1:c.358del NP_001341233.1:p.Trp120GlyfsTer?
XM_017019370.2:c.358del XP_016874859.1:p.Trp120GlyfsTer?
NM_000277.3:c.358del MANE Select NP_000268.1:p.Trp120GlyfsTer?
NM_001354304.2:c.358del NP_001341233.1:p.Trp120GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'