Canonical Allele Identifier: CA2059441336
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840378_102840379delinsTC , CM000674.2:g.102840378_102840379delinsTC GRCh38
NC_000012.11:g.103234156_103234157delinsTC , CM000674.1:g.103234156_103234157delinsTC GRCh37
NC_000012.10:g.101758286_101758287delinsTC NCBI36
NG_008690.1:g.82224_82225delinsGA
NG_008690.2:g.123032_123033delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+21_1315+22delinsGA MANE Select ENSP00000448059.1:n.1315+21_1315+22delins...
ENST00000307000.7:c.1300+21_1300+22delinsGA ENSP00000303500.2:n.1300+21_1300+22delins...
ENST00000551114.2:n.977+21_977+22delinsGA
ENST00000553106.5:c.1315+21_1315+22delinsGA ENSP00000448059.1:n.1315+21_1315+22delins...
ENST00000635477.1:c.419+21_419+22delinsGA
ENST00000635528.1:n.830+21_830+22delinsGA
NM_000277.1:c.1315+21_1315+22delinsGA NP_000268.1:n.1315+21_1315+22delinsGA
XM_011538422.1:c.1258+21_1258+22delinsGA XP_011536724.1:n.1258+21_1258+22delinsGA
NM_000277.2:c.1315+21_1315+22delinsGA NP_000268.1:n.1315+21_1315+22delinsGA
NM_001354304.1:c.1315+21_1315+22delinsGA NP_001341233.1:n.1315+21_1315+22delinsGA
NM_000277.3:c.1315+21_1315+22delinsGA MANE Select NP_000268.1:n.1315+21_1315+22delinsGA
NM_001354304.2:c.1315+21_1315+22delinsGA NP_001341233.1:n.1315+21_1315+22delinsGA
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