Canonical Allele Identifier: CA2620509325
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102846872-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846875del , CM000674.2:g.102846875del GRCh38
NC_000012.11:g.103240653del , CM000674.1:g.103240653del GRCh37
NC_000012.10:g.101764783del NCBI36
NG_008690.1:g.75730del
NG_008690.2:g.116538del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+22del MANE Select ENSP00000448059.1:n.969+22del
ENST00000307000.7:c.954+22del ENSP00000303500.2:n.954+22del
ENST00000549247.6:n.728+22del
ENST00000551114.2:n.631+22del
ENST00000553106.5:c.969+22del ENSP00000448059.1:n.969+22del
ENST00000635477.1:c.74-2442del
ENST00000635528.1:n.484+22del
NM_000277.1:c.969+22del NP_000268.1:n.969+22del
XM_011538422.1:c.913-2442del XP_011536724.1:n.913-2442del
NM_000277.2:c.969+22del NP_000268.1:n.969+22del
NM_001354304.1:c.969+22del NP_001341233.1:n.969+22del
NM_000277.3:c.969+22del MANE Select NP_000268.1:n.969+22del
NM_001354304.2:c.969+22del NP_001341233.1:n.969+22del
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