Canonical Allele Identifier: CA682803215
Community Standard Title: NM_000277.3(PAH):c.912+565_912+566del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851122_102851123del , CM000674.2:g.102851122_102851123del GRCh38
NC_000012.11:g.103244900_103244901del , CM000674.1:g.103244900_103244901del GRCh37
NC_000012.10:g.101769030_101769031del NCBI36
NG_008690.1:g.71481_71482del
NG_008690.2:g.112289_112290del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+565_912+566del MANE Select NP_000268.1:n.912+565_912+566del
ENST00000553106.6:c.912+565_912+566del MANE Select ENSP00000448059.1:n.912+565_912+566del
NM_000277.1:c.912+565_912+566del NP_000268.1:n.912+565_912+566del
NM_000277.2:c.912+565_912+566del NP_000268.1:n.912+565_912+566del
NM_001354304.1:c.912+565_912+566del NP_001341233.1:n.912+565_912+566del
NM_001354304.2:c.912+565_912+566del NP_001341233.1:n.912+565_912+566del
ENST00000307000.7:c.897+565_897+566del ENSP00000303500.2:n.897+565_897+566del
ENST00000549247.6:n.671+565_671+566del
ENST00000551114.2:n.574+565_574+566del
ENST00000553106.5:c.912+565_912+566del ENSP00000448059.1:n.912+565_912+566del
ENST00000635477.1:c.73+565_73+566del
XM_011538422.1:c.912+565_912+566del XP_011536724.1:n.912+565_912+566del
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