Canonical Allele Identifier: CA2620516238
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102853204-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102853209del , CM000674.2:g.102853209del GRCh38
NC_000012.11:g.103246987del , CM000674.1:g.103246987del GRCh37
NC_000012.10:g.101771117del NCBI36
NG_008690.1:g.69398del
NG_008690.2:g.110206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-255del MANE Select ENSP00000448059.1:n.707-255del
ENST00000307000.7:c.692-255del ENSP00000303500.2:n.692-255del
ENST00000549247.6:n.211del
ENST00000553106.5:c.707-255del ENSP00000448059.1:n.707-255del
NM_000277.1:c.707-255del NP_000268.1:n.707-255del
XM_011538422.1:c.707-255del XP_011536724.1:n.707-255del
NM_000277.2:c.707-255del NP_000268.1:n.707-255del
NM_001354304.1:c.707-255del NP_001341233.1:n.707-255del
NM_000277.3:c.707-255del MANE Select NP_000268.1:n.707-255del
NM_001354304.2:c.707-255del NP_001341233.1:n.707-255del
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