Canonical Allele Identifier: CA2059456619
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865811_102865814delinsATCT , CM000674.2:g.102865811_102865814delinsATCT GRCh38
NC_000012.11:g.103259589_103259592delinsATCT , CM000674.1:g.103259589_103259592delinsATCT GRCh37
NC_000012.10:g.101783719_101783722delinsATCT NCBI36
NG_008690.1:g.56789_56792delinsAGAT
NG_008690.2:g.97597_97600delinsAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+782_509+785delinsAGAT MANE Select ENSP00000448059.1:n.509+782_509+785delinsAGAT
ENST00000307000.7:c.494+782_494+785delinsAGAT ENSP00000303500.2:n.494+782_494+785delinsAGAT
ENST00000549111.5:n.605+782_605+785delinsAGAT
ENST00000551988.5:n.531-10482_531-10479delinsAGAT
ENST00000553106.5:c.509+782_509+785delinsAGAT ENSP00000448059.1:n.509+782_509+785delinsAGAT
NM_000277.1:c.509+782_509+785delinsAGAT NP_000268.1:n.509+782_509+785delinsAGAT
XM_011538422.1:c.509+782_509+785delinsAGAT XP_011536724.1:n.509+782_509+785delinsAGAT
NM_000277.2:c.509+782_509+785delinsAGAT NP_000268.1:n.509+782_509+785delinsAGAT
NM_001354304.1:c.509+782_509+785delinsAGAT NP_001341233.1:n.509+782_509+785delinsAGAT
XM_017019370.2:c.509+782_509+785delinsAGAT XP_016874859.1:n.509+782_509+785delinsAGAT
NM_000277.3:c.509+782_509+785delinsAGAT MANE Select NP_000268.1:n.509+782_509+785delinsAGAT
NM_001354304.2:c.509+782_509+785delinsAGAT NP_001341233.1:n.509+782_509+785delinsAGAT
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