Canonical Allele Identifier: CA2575266793
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846808del , CM000674.2:g.102846808del GRCh38
NC_000012.11:g.103240586del , CM000674.1:g.103240586del GRCh37
NC_000012.10:g.101764716del NCBI36
NG_008690.1:g.75796del
NG_008690.2:g.116604del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+88del MANE Select ENSP00000448059.1:n.969+88del
ENST00000307000.7:c.954+88del ENSP00000303500.2:n.954+88del
ENST00000549247.6:n.728+88del
ENST00000551114.2:n.631+88del
ENST00000553106.5:c.969+88del ENSP00000448059.1:n.969+88del
ENST00000635477.1:c.74-2376del
ENST00000635528.1:n.484+88del
NM_000277.1:c.969+88del NP_000268.1:n.969+88del
XM_011538422.1:c.913-2376del XP_011536724.1:n.913-2376del
NM_000277.2:c.969+88del NP_000268.1:n.969+88del
NM_001354304.1:c.969+88del NP_001341233.1:n.969+88del
NM_000277.3:c.969+88del MANE Select NP_000268.1:n.969+88del
NM_001354304.2:c.969+88del NP_001341233.1:n.969+88del
Search 100 bp 5'
Search 100 bp 3'