Canonical Allele Identifier: CA2797243557
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854351_102854353del , CM000674.2:g.102854351_102854353del GRCh38
NC_000012.11:g.103248129_103248131del , CM000674.1:g.103248129_103248131del GRCh37
NC_000012.10:g.101772259_101772261del NCBI36
NG_008690.1:g.68250_68252del
NG_008690.2:g.109058_109060del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+783_706+785del MANE Select ENSP00000448059.1:n.706+783_706+785del
ENST00000307000.7:c.691+783_691+785del ENSP00000303500.2:n.691+783_691+785del
ENST00000553106.5:c.706+783_706+785del ENSP00000448059.1:n.706+783_706+785del
NM_000277.1:c.706+783_706+785del NP_000268.1:n.706+783_706+785del
XM_011538422.1:c.706+783_706+785del XP_011536724.1:n.706+783_706+785del
NM_000277.2:c.706+783_706+785del NP_000268.1:n.706+783_706+785del
NM_001354304.1:c.706+783_706+785del NP_001341233.1:n.706+783_706+785del
XM_017019370.2:c.*432_*434del XP_016874859.1:n.*432_*434del
NM_000277.3:c.706+783_706+785del MANE Select NP_000268.1:n.706+783_706+785del
NM_001354304.2:c.706+783_706+785del NP_001341233.1:n.706+783_706+785del
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