Canonical Allele Identifier: CA2575266928
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866502_102866503insTCTGTGA , CM000674.2:g.102866502_102866503insTCTGTGA GRCh38
NC_000012.11:g.103260280_103260281insTCTGTGA , CM000674.1:g.103260280_103260281insTCTGTGA GRCh37
NC_000012.10:g.101784410_101784411insTCTGTGA NCBI36
NG_008690.1:g.56100_56101insTCACAGA
NG_008690.2:g.96908_96909insTCACAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+93_509+94insTCACAGA MANE Select ENSP00000448059.1:n.509+93_509+94insTCACA...
ENST00000307000.7:c.494+93_494+94insTCACAGA ENSP00000303500.2:n.494+93_494+94insTCACA...
ENST00000549111.5:n.605+93_605+94insTCACAGA
ENST00000551988.5:n.530+10959_530+10960insTCACAGA
ENST00000553106.5:c.509+93_509+94insTCACAGA ENSP00000448059.1:n.509+93_509+94insTCACA...
NM_000277.1:c.509+93_509+94insTCACAGA NP_000268.1:n.509+93_509+94insTCACAGA
XM_011538422.1:c.509+93_509+94insTCACAGA XP_011536724.1:n.509+93_509+94insTCACAGA
NM_000277.2:c.509+93_509+94insTCACAGA NP_000268.1:n.509+93_509+94insTCACAGA
NM_001354304.1:c.509+93_509+94insTCACAGA NP_001341233.1:n.509+93_509+94insTCACAGA
XM_017019370.2:c.509+93_509+94insTCACAGA XP_016874859.1:n.509+93_509+94insTCACAGA
NM_000277.3:c.509+93_509+94insTCACAGA MANE Select NP_000268.1:n.509+93_509+94insTCACAGA
NM_001354304.2:c.509+93_509+94insTCACAGA NP_001341233.1:n.509+93_509+94insTCACAGA