Canonical Allele Identifier: CA2059450891
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846489_102846490delinsAC , CM000674.2:g.102846489_102846490delinsAC GRCh38
NC_000012.11:g.103240267_103240268delinsAC , CM000674.1:g.103240267_103240268delinsAC GRCh37
NC_000012.10:g.101764397_101764398delinsAC NCBI36
NG_008690.1:g.76113_76114delinsGT
NG_008690.2:g.116921_116922delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+405_969+406delinsGT MANE Select ENSP00000448059.1:n.969+405_969+406delinsGT
ENST00000307000.7:c.954+405_954+406delinsGT ENSP00000303500.2:n.954+405_954+406delinsGT
ENST00000549247.6:n.728+405_728+406delinsGT
ENST00000551114.2:n.631+405_631+406delinsGT
ENST00000553106.5:c.969+405_969+406delinsGT ENSP00000448059.1:n.969+405_969+406delinsGT
ENST00000635477.1:c.74-2059_74-2058delinsGT
ENST00000635528.1:n.484+405_484+406delinsGT
NM_000277.1:c.969+405_969+406delinsGT NP_000268.1:n.969+405_969+406delinsGT
XM_011538422.1:c.913-2059_913-2058delinsGT XP_011536724.1:n.913-2059_913-2058delinsGT
NM_000277.2:c.969+405_969+406delinsGT NP_000268.1:n.969+405_969+406delinsGT
NM_001354304.1:c.969+405_969+406delinsGT NP_001341233.1:n.969+405_969+406delinsGT
NM_000277.3:c.969+405_969+406delinsGT MANE Select NP_000268.1:n.969+405_969+406delinsGT
NM_001354304.2:c.969+405_969+406delinsGT NP_001341233.1:n.969+405_969+406delinsGT
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