Canonical Allele Identifier: CA2620525592
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854825-AAAAC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854829_102854832del , CM000674.2:g.102854829_102854832del GRCh38
NC_000012.11:g.103248607_103248610del , CM000674.1:g.103248607_103248610del GRCh37
NC_000012.10:g.101772737_101772740del NCBI36
NG_008690.1:g.67774_67777del
NG_008690.2:g.108582_108585del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+307_706+310del MANE Select ENSP00000448059.1:n.706+307_706+310del
ENST00000307000.7:c.691+307_691+310del ENSP00000303500.2:n.691+307_691+310del
ENST00000549111.5:n.1109_1112del
ENST00000553106.5:c.706+307_706+310del ENSP00000448059.1:n.706+307_706+310del
NM_000277.1:c.706+307_706+310del NP_000268.1:n.706+307_706+310del
XM_011538422.1:c.706+307_706+310del XP_011536724.1:n.706+307_706+310del
NM_000277.2:c.706+307_706+310del NP_000268.1:n.706+307_706+310del
NM_001354304.1:c.706+307_706+310del NP_001341233.1:n.706+307_706+310del
XM_017019370.2:c.707-28_707-25del XP_016874859.1:n.707-28_707-25del
NM_000277.3:c.706+307_706+310del MANE Select NP_000268.1:n.706+307_706+310del
NM_001354304.2:c.706+307_706+310del NP_001341233.1:n.706+307_706+310del
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