Canonical Allele Identifier: CA2979028085
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846802_102846805del , CM000674.2:g.102846802_102846805del GRCh38
NC_000012.11:g.103240580_103240583del , CM000674.1:g.103240580_103240583del GRCh37
NC_000012.10:g.101764710_101764713del NCBI36
NG_008690.1:g.75798_75801del
NG_008690.2:g.116606_116609del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+90_969+93del MANE Select ENSP00000448059.1:n.969+90_969+93del
ENST00000307000.7:c.954+90_954+93del ENSP00000303500.2:n.954+90_954+93del
ENST00000549247.6:n.728+90_728+93del
ENST00000551114.2:n.631+90_631+93del
ENST00000553106.5:c.969+90_969+93del ENSP00000448059.1:n.969+90_969+93del
ENST00000635477.1:c.74-2374_74-2371del
ENST00000635528.1:n.484+90_484+93del
NM_000277.1:c.969+90_969+93del NP_000268.1:n.969+90_969+93del
XM_011538422.1:c.913-2374_913-2371del XP_011536724.1:n.913-2374_913-2371del
NM_000277.2:c.969+90_969+93del NP_000268.1:n.969+90_969+93del
NM_001354304.1:c.969+90_969+93del NP_001341233.1:n.969+90_969+93del
NM_000277.3:c.969+90_969+93del MANE Select NP_000268.1:n.969+90_969+93del
NM_001354304.2:c.969+90_969+93del NP_001341233.1:n.969+90_969+93del
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