Canonical Allele Identifier: CA2831039776
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852903_102852913del , CM000674.2:g.102852903_102852913del GRCh38
NC_000012.11:g.103246681_103246691del , CM000674.1:g.103246681_103246691del GRCh37
NC_000012.10:g.101770811_101770821del NCBI36
NG_008690.1:g.69691_69701del
NG_008690.2:g.110499_110509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.745_755del MANE Select ENSP00000448059.1:p.Leu249GlyfsTer30
ENST00000307000.7:c.730_740del ENSP00000303500.2:p.Leu244GlyfsTer30
ENST00000549247.6:n.504_514del
ENST00000553106.5:c.745_755del ENSP00000448059.1:p.Leu249GlyfsTer30
NM_000277.1:c.745_755del NP_000268.1:p.Leu249GlyfsTer30
XM_011538422.1:c.745_755del XP_011536724.1:p.Leu249GlyfsTer30
NM_000277.2:c.745_755del NP_000268.1:p.Leu249GlyfsTer30
NM_001354304.1:c.745_755del NP_001341233.1:p.Leu249GlyfsTer30
NM_000277.3:c.745_755del MANE Select NP_000268.1:p.Leu249GlyfsTer30
NM_001354304.2:c.745_755del NP_001341233.1:p.Leu249GlyfsTer30
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