Canonical Allele Identifier: CA2059446993
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843790_102843791delinsCA , CM000674.2:g.102843790_102843791delinsCA GRCh38
NC_000012.11:g.103237568_103237569delinsCA , CM000674.1:g.103237568_103237569delinsCA GRCh37
NC_000012.10:g.101761698_101761699delinsCA NCBI36
NG_008690.1:g.78812_78813delinsTG
NG_008690.2:g.119620_119621delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1066-12_1066-11delinsTG MANE Select ENSP00000448059.1:n.1066-12_1066-11delins...
ENST00000307000.7:c.1051-12_1051-11delinsTG ENSP00000303500.2:n.1051-12_1051-11delins...
ENST00000549247.6:n.825-12_825-11delinsTG
ENST00000551114.2:n.728-12_728-11delinsTG
ENST00000553106.5:c.1066-12_1066-11delinsTG ENSP00000448059.1:n.1066-12_1066-11delins...
ENST00000635477.1:c.170-12_170-11delinsTG
ENST00000635528.1:n.581-12_581-11delinsTG
NM_000277.1:c.1066-12_1066-11delinsTG NP_000268.1:n.1066-12_1066-11delinsTG
XM_011538422.1:c.1009-12_1009-11delinsTG XP_011536724.1:n.1009-12_1009-11delinsTG
NM_000277.2:c.1066-12_1066-11delinsTG NP_000268.1:n.1066-12_1066-11delinsTG
NM_001354304.1:c.1066-12_1066-11delinsTG NP_001341233.1:n.1066-12_1066-11delinsTG
NM_000277.3:c.1066-12_1066-11delinsTG MANE Select NP_000268.1:n.1066-12_1066-11delinsTG
NM_001354304.2:c.1066-12_1066-11delinsTG NP_001341233.1:n.1066-12_1066-11delinsTG
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