Canonical Allele Identifier: CA2059466273
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1877408933
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894442_102894447del , CM000674.2:g.102894442_102894447del GRCh38
NC_000012.11:g.103288220_103288225del , CM000674.1:g.103288220_103288225del GRCh37
NC_000012.10:g.101812350_101812355del NCBI36
NG_008690.1:g.28161_28166del
NG_008690.2:g.68969_68974del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+293_352+298del MANE Select ENSP00000448059.1:n.352+293_352+298del
ENST00000307000.7:c.337+293_337+298del ENSP00000303500.2:n.337+293_337+298del
ENST00000548928.1:n.274+293_274+298del
ENST00000549111.5:n.448+293_448+298del
ENST00000550978.6:c.336+293_336+298del
ENST00000551337.5:c.352+293_352+298del ENSP00000447620.1:n.352+293_352+298del
ENST00000551988.5:n.441+293_441+298del
ENST00000553106.5:c.352+293_352+298del ENSP00000448059.1:n.352+293_352+298del
NM_000277.1:c.352+293_352+298del NP_000268.1:n.352+293_352+298del
XM_011538422.1:c.352+293_352+298del XP_011536724.1:n.352+293_352+298del
NM_000277.2:c.352+293_352+298del NP_000268.1:n.352+293_352+298del
NM_001354304.1:c.352+293_352+298del NP_001341233.1:n.352+293_352+298del
XM_017019370.2:c.352+293_352+298del XP_016874859.1:n.352+293_352+298del
NM_000277.3:c.352+293_352+298del MANE Select NP_000268.1:n.352+293_352+298del
NM_001354304.2:c.352+293_352+298del NP_001341233.1:n.352+293_352+298del
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