Canonical Allele Identifier: CA2580085692
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1726597
ClinVar RCV Id: RCV002310281
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912839_102912840del , CM000674.2:g.102912839_102912840del GRCh38
NC_000012.11:g.103306617_103306618del , CM000674.1:g.103306617_103306618del GRCh37
NC_000012.10:g.101830747_101830748del NCBI36
NG_008690.1:g.9764_9765del
NG_008690.2:g.50572_50573del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.120_121del MANE Select ENSP00000448059.1:p.Leu41GlnfsTer15
ENST00000307000.7:c.105_106del ENSP00000303500.2:p.Leu36GlnfsTer15
ENST00000546844.1:c.120_121del ENSP00000446658.1:p.Leu41GlnfsTer15
ENST00000548677.2:n.207_208del
ENST00000548928.1:n.42_43del
ENST00000549111.5:n.216_217del
ENST00000550978.6:c.104_105del
ENST00000551337.5:c.120_121del ENSP00000447620.1:p.Leu41GlnfsTer15
ENST00000551988.5:n.209_210del
ENST00000553106.5:c.120_121del ENSP00000448059.1:p.Leu41GlnfsTer15
ENST00000635500.1:n.88_89del
NM_000277.1:c.120_121del NP_000268.1:p.Leu41GlnfsTer15
XM_011538422.1:c.120_121del XP_011536724.1:p.Leu41GlnfsTer15
NM_000277.2:c.120_121del NP_000268.1:p.Leu41GlnfsTer15
NM_001354304.1:c.120_121del NP_001341233.1:p.Leu41GlnfsTer15
XM_017019370.2:c.120_121del XP_016874859.1:p.Leu41GlnfsTer15
NM_000277.3:c.120_121del MANE Select NP_000268.1:p.Leu41GlnfsTer15
NM_001354304.2:c.120_121del NP_001341233.1:p.Leu41GlnfsTer15
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