Canonical Allele Identifier: CA951234630
Community Standard Title: NM_000277.3(PAH):c.912+549_912+550insAAA
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851139_102851140insTTT , CM000674.2:g.102851139_102851140insTTT GRCh38
NC_000012.11:g.103244917_103244918insTTT , CM000674.1:g.103244917_103244918insTTT GRCh37
NC_000012.10:g.101769047_101769048insTTT NCBI36
NG_008690.1:g.71465_71466insAAA
NG_008690.2:g.112273_112274insAAA

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+549_912+550insAAA MANE Select NP_000268.1:n.912+549_912+550insAAA
ENST00000553106.6:c.912+549_912+550insAAA MANE Select ENSP00000448059.1:n.912+549_912+550insAAA
NM_000277.1:c.912+549_912+550insAAA NP_000268.1:n.912+549_912+550insAAA
NM_000277.2:c.912+549_912+550insAAA NP_000268.1:n.912+549_912+550insAAA
NM_001354304.1:c.912+549_912+550insAAA NP_001341233.1:n.912+549_912+550insAAA
NM_001354304.2:c.912+549_912+550insAAA NP_001341233.1:n.912+549_912+550insAAA
ENST00000307000.7:c.897+549_897+550insAAA ENSP00000303500.2:n.897+549_897+550insAAA
ENST00000549247.6:n.671+549_671+550insAAA
ENST00000551114.2:n.574+549_574+550insAAA
ENST00000553106.5:c.912+549_912+550insAAA ENSP00000448059.1:n.912+549_912+550insAAA
ENST00000635477.1:c.73+549_73+550insAAA
XM_011538422.1:c.912+549_912+550insAAA XP_011536724.1:n.912+549_912+550insAAA
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