Canonical Allele Identifier: CA2557783242
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865467_102865480del , CM000674.2:g.102865467_102865480del GRCh38
NC_000012.11:g.103259245_103259258del , CM000674.1:g.103259245_103259258del GRCh37
NC_000012.10:g.101783375_101783388del NCBI36
NG_008690.1:g.57128_57141del
NG_008690.2:g.97936_97949del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+1121_509+1134del MANE Select ENSP00000448059.1:n.509+1121_509+1134del
ENST00000307000.7:c.494+1121_494+1134del ENSP00000303500.2:n.494+1121_494+1134del
ENST00000549111.5:n.605+1121_605+1134del
ENST00000551988.5:n.531-10143_531-10130del
ENST00000553106.5:c.509+1121_509+1134del ENSP00000448059.1:n.509+1121_509+1134del
NM_000277.1:c.509+1121_509+1134del NP_000268.1:n.509+1121_509+1134del
XM_011538422.1:c.509+1121_509+1134del XP_011536724.1:n.509+1121_509+1134del
NM_000277.2:c.509+1121_509+1134del NP_000268.1:n.509+1121_509+1134del
NM_001354304.1:c.509+1121_509+1134del NP_001341233.1:n.509+1121_509+1134del
XM_017019370.2:c.509+1121_509+1134del XP_016874859.1:n.509+1121_509+1134del
NM_000277.3:c.509+1121_509+1134del MANE Select NP_000268.1:n.509+1121_509+1134del
NM_001354304.2:c.509+1121_509+1134del NP_001341233.1:n.509+1121_509+1134del
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