Canonical Allele Identifier: CA2575266806
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846866_102846868del , CM000674.2:g.102846866_102846868del GRCh38
NC_000012.11:g.103240644_103240646del , CM000674.1:g.103240644_103240646del GRCh37
NC_000012.10:g.101764774_101764776del NCBI36
NG_008690.1:g.75738_75740del
NG_008690.2:g.116546_116548del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+30_969+32del MANE Select ENSP00000448059.1:n.969+30_969+32del
ENST00000307000.7:c.954+30_954+32del ENSP00000303500.2:n.954+30_954+32del
ENST00000549247.6:n.728+30_728+32del
ENST00000551114.2:n.631+30_631+32del
ENST00000553106.5:c.969+30_969+32del ENSP00000448059.1:n.969+30_969+32del
ENST00000635477.1:c.74-2434_74-2432del
ENST00000635528.1:n.484+30_484+32del
NM_000277.1:c.969+30_969+32del NP_000268.1:n.969+30_969+32del
XM_011538422.1:c.913-2434_913-2432del XP_011536724.1:n.913-2434_913-2432del
NM_000277.2:c.969+30_969+32del NP_000268.1:n.969+30_969+32del
NM_001354304.1:c.969+30_969+32del NP_001341233.1:n.969+30_969+32del
NM_000277.3:c.969+30_969+32del MANE Select NP_000268.1:n.969+30_969+32del
NM_001354304.2:c.969+30_969+32del NP_001341233.1:n.969+30_969+32del
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