Canonical Allele Identifier: CA3054215012
Community Standard Title: NM_000277.3(PAH):c.1158_1167del (p.Tyr386Ter)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843679_102843688del , CM000674.2:g.102843679_102843688del GRCh38
NC_000012.11:g.103237457_103237466del , CM000674.1:g.103237457_103237466del GRCh37
NC_000012.10:g.101761587_101761596del NCBI36
NG_008690.1:g.78916_78925del
NG_008690.2:g.119724_119733del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1158_1167del MANE Select NP_000268.1:p.Tyr386Ter
ENST00000553106.6:c.1158_1167del MANE Select ENSP00000448059.1:p.Tyr386Ter
NM_000277.1:c.1158_1167del NP_000268.1:p.Tyr386Ter
NM_000277.2:c.1158_1167del NP_000268.1:p.Tyr386Ter
NM_001354304.1:c.1158_1167del NP_001341233.1:p.Tyr386Ter
NM_001354304.2:c.1158_1167del NP_001341233.1:p.Tyr386Ter
ENST00000307000.7:c.1143_1152del ENSP00000303500.2:p.Tyr381Ter
ENST00000549247.6:n.917_926del
ENST00000551114.2:n.820_829del
ENST00000553106.5:c.1158_1167del ENSP00000448059.1:p.Tyr386Ter
ENST00000635477.1:c.262_271del
ENST00000635528.1:n.673_682del
XM_011538422.1:c.1101_1110del XP_011536724.1:p.Tyr367Ter
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