Canonical Allele Identifier: CA951241217
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102866072-ACCC-A
gnomAD v4: 12-102866072-ACCC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866074_102866076del , CM000674.2:g.102866074_102866076del GRCh38
NC_000012.11:g.103259852_103259854del , CM000674.1:g.103259852_103259854del GRCh37
NC_000012.10:g.101783982_101783984del NCBI36
NG_008690.1:g.56528_56530del
NG_008690.2:g.97336_97338del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+521_509+523del MANE Select ENSP00000448059.1:n.509+521_509+523del
ENST00000307000.7:c.494+521_494+523del ENSP00000303500.2:n.494+521_494+523del
ENST00000549111.5:n.605+521_605+523del
ENST00000551988.5:n.531-10743_531-10741del
ENST00000553106.5:c.509+521_509+523del ENSP00000448059.1:n.509+521_509+523del
NM_000277.1:c.509+521_509+523del NP_000268.1:n.509+521_509+523del
XM_011538422.1:c.509+521_509+523del XP_011536724.1:n.509+521_509+523del
NM_000277.2:c.509+521_509+523del NP_000268.1:n.509+521_509+523del
NM_001354304.1:c.509+521_509+523del NP_001341233.1:n.509+521_509+523del
XM_017019370.2:c.509+521_509+523del XP_016874859.1:n.509+521_509+523del
NM_000277.3:c.509+521_509+523del MANE Select NP_000268.1:n.509+521_509+523del
NM_001354304.2:c.509+521_509+523del NP_001341233.1:n.509+521_509+523del
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