Canonical Allele Identifier: CA2695199167
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2677440
ClinVar RCV Id: RCV003476587
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855218_102855225del , CM000674.2:g.102855218_102855225del GRCh38
NC_000012.11:g.103248996_103249003del , CM000674.1:g.103248996_103249003del GRCh37
NC_000012.10:g.101773126_101773133del NCBI36
NG_008690.1:g.67379_67386del
NG_008690.2:g.108187_108194del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.618_625del MANE Select ENSP00000448059.1:p.Asn207PhefsTer5
ENST00000307000.7:c.603_610del ENSP00000303500.2:p.Asn202PhefsTer5
ENST00000549111.5:n.714_721del
ENST00000553106.5:c.618_625del ENSP00000448059.1:p.Asn207PhefsTer5
NM_000277.1:c.618_625del NP_000268.1:p.Asn207PhefsTer5
XM_011538422.1:c.618_625del XP_011536724.1:p.Asn207PhefsTer5
NM_000277.2:c.618_625del NP_000268.1:p.Asn207PhefsTer5
NM_001354304.1:c.618_625del NP_001341233.1:p.Asn207PhefsTer5
XM_017019370.2:c.618_625del XP_016874859.1:p.Asn207PhefsTer5
NM_000277.3:c.618_625del MANE Select NP_000268.1:p.Asn207PhefsTer5
NM_001354304.2:c.618_625del NP_001341233.1:p.Asn207PhefsTer5
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