Canonical Allele Identifier: CA2059447028
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843808_102843809delinsCA , CM000674.2:g.102843808_102843809delinsCA GRCh38
NC_000012.11:g.103237586_103237587delinsCA , CM000674.1:g.103237586_103237587delinsCA GRCh37
NC_000012.10:g.101761716_101761717delinsCA NCBI36
NG_008690.1:g.78794_78795delinsTG
NG_008690.2:g.119602_119603delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1066-30_1066-29delinsTG MANE Select ENSP00000448059.1:n.1066-30_1066-29delins...
ENST00000307000.7:c.1051-30_1051-29delinsTG ENSP00000303500.2:n.1051-30_1051-29delins...
ENST00000549247.6:n.825-30_825-29delinsTG
ENST00000551114.2:n.728-30_728-29delinsTG
ENST00000553106.5:c.1066-30_1066-29delinsTG ENSP00000448059.1:n.1066-30_1066-29delins...
ENST00000635477.1:c.170-30_170-29delinsTG
ENST00000635528.1:n.581-30_581-29delinsTG
NM_000277.1:c.1066-30_1066-29delinsTG NP_000268.1:n.1066-30_1066-29delinsTG
XM_011538422.1:c.1009-30_1009-29delinsTG XP_011536724.1:n.1009-30_1009-29delinsTG
NM_000277.2:c.1066-30_1066-29delinsTG NP_000268.1:n.1066-30_1066-29delinsTG
NM_001354304.1:c.1066-30_1066-29delinsTG NP_001341233.1:n.1066-30_1066-29delinsTG
NM_000277.3:c.1066-30_1066-29delinsTG MANE Select NP_000268.1:n.1066-30_1066-29delinsTG
NM_001354304.2:c.1066-30_1066-29delinsTG NP_001341233.1:n.1066-30_1066-29delinsTG