Canonical Allele Identifier: CA951241233
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102866081-AGG-A
gnomAD v4: 12-102866081-AGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866082_102866083del , CM000674.2:g.102866082_102866083del GRCh38
NC_000012.11:g.103259860_103259861del , CM000674.1:g.103259860_103259861del GRCh37
NC_000012.10:g.101783990_101783991del NCBI36
NG_008690.1:g.56520_56521del
NG_008690.2:g.97328_97329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+513_509+514del MANE Select ENSP00000448059.1:n.509+513_509+514del
ENST00000307000.7:c.494+513_494+514del ENSP00000303500.2:n.494+513_494+514del
ENST00000549111.5:n.605+513_605+514del
ENST00000551988.5:n.531-10751_531-10750del
ENST00000553106.5:c.509+513_509+514del ENSP00000448059.1:n.509+513_509+514del
NM_000277.1:c.509+513_509+514del NP_000268.1:n.509+513_509+514del
XM_011538422.1:c.509+513_509+514del XP_011536724.1:n.509+513_509+514del
NM_000277.2:c.509+513_509+514del NP_000268.1:n.509+513_509+514del
NM_001354304.1:c.509+513_509+514del NP_001341233.1:n.509+513_509+514del
XM_017019370.2:c.509+513_509+514del XP_016874859.1:n.509+513_509+514del
NM_000277.3:c.509+513_509+514del MANE Select NP_000268.1:n.509+513_509+514del
NM_001354304.2:c.509+513_509+514del NP_001341233.1:n.509+513_509+514del
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