Canonical Allele Identifier: CA2620525471
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854797del , CM000674.2:g.102854797del GRCh38
NC_000012.11:g.103248575del , CM000674.1:g.103248575del GRCh37
NC_000012.10:g.101772705del NCBI36
NG_008690.1:g.67806del
NG_008690.2:g.108614del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+339del MANE Select ENSP00000448059.1:n.706+339del
ENST00000307000.7:c.691+339del ENSP00000303500.2:n.691+339del
ENST00000549111.5:n.1141del
ENST00000553106.5:c.706+339del ENSP00000448059.1:n.706+339del
NM_000277.1:c.706+339del NP_000268.1:n.706+339del
XM_011538422.1:c.706+339del XP_011536724.1:n.706+339del
NM_000277.2:c.706+339del NP_000268.1:n.706+339del
NM_001354304.1:c.706+339del NP_001341233.1:n.706+339del
XM_017019370.2:c.711del XP_016874859.1:p.Ala238LeufsTer?
NM_000277.3:c.706+339del MANE Select NP_000268.1:n.706+339del
NM_001354304.2:c.706+339del NP_001341233.1:n.706+339del
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