Canonical Allele Identifier: CA2620509317
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102846869-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846871del , CM000674.2:g.102846871del GRCh38
NC_000012.11:g.103240649del , CM000674.1:g.103240649del GRCh37
NC_000012.10:g.101764779del NCBI36
NG_008690.1:g.75733del
NG_008690.2:g.116541del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+25del MANE Select ENSP00000448059.1:n.969+25del
ENST00000307000.7:c.954+25del ENSP00000303500.2:n.954+25del
ENST00000549247.6:n.728+25del
ENST00000551114.2:n.631+25del
ENST00000553106.5:c.969+25del ENSP00000448059.1:n.969+25del
ENST00000635477.1:c.74-2439del
ENST00000635528.1:n.484+25del
NM_000277.1:c.969+25del NP_000268.1:n.969+25del
XM_011538422.1:c.913-2439del XP_011536724.1:n.913-2439del
NM_000277.2:c.969+25del NP_000268.1:n.969+25del
NM_001354304.1:c.969+25del NP_001341233.1:n.969+25del
NM_000277.3:c.969+25del MANE Select NP_000268.1:n.969+25del
NM_001354304.2:c.969+25del NP_001341233.1:n.969+25del
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