Canonical Allele Identifier: CA2620526441
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102855176-ATCT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855179_102855181del , CM000674.2:g.102855179_102855181del GRCh38
NC_000012.11:g.103248957_103248959del , CM000674.1:g.103248957_103248959del GRCh37
NC_000012.10:g.101773087_101773089del NCBI36
NG_008690.1:g.67424_67426del
NG_008690.2:g.108232_108234del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.663_665del MANE Select ENSP00000448059.1:p.Glu221del
ENST00000307000.7:c.648_650del ENSP00000303500.2:p.Glu216del
ENST00000549111.5:n.759_761del
ENST00000553106.5:c.663_665del ENSP00000448059.1:p.Glu221del
NM_000277.1:c.663_665del NP_000268.1:p.Glu221del
XM_011538422.1:c.663_665del XP_011536724.1:p.Glu221del
NM_000277.2:c.663_665del NP_000268.1:p.Glu221del
NM_001354304.1:c.663_665del NP_001341233.1:p.Glu221del
XM_017019370.2:c.663_665del XP_016874859.1:p.Glu221del
NM_000277.3:c.663_665del MANE Select NP_000268.1:p.Glu221del
NM_001354304.2:c.663_665del NP_001341233.1:p.Glu221del
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