Canonical Allele Identifier: CA2695217163
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855262delinsTC , CM000674.2:g.102855262delinsTC GRCh38
NC_000012.11:g.103249040delinsTC , CM000674.1:g.103249040delinsTC GRCh37
NC_000012.10:g.101773170delinsTC NCBI36
NG_008690.1:g.67341delinsGA
NG_008690.2:g.108149delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.580delinsGA MANE Select ENSP00000448059.1:p.Leu194AspfsTer6
ENST00000307000.7:c.565delinsGA ENSP00000303500.2:p.Leu189AspfsTer6
ENST00000549111.5:n.676delinsGA
ENST00000553106.5:c.580delinsGA ENSP00000448059.1:p.Leu194AspfsTer6
NM_000277.1:c.580delinsGA NP_000268.1:p.Leu194AspfsTer6
XM_011538422.1:c.580delinsGA XP_011536724.1:p.Leu194AspfsTer6
NM_000277.2:c.580delinsGA NP_000268.1:p.Leu194AspfsTer6
NM_001354304.1:c.580delinsGA NP_001341233.1:p.Leu194AspfsTer6
XM_017019370.2:c.580delinsGA XP_016874859.1:p.Leu194AspfsTer6
NM_000277.3:c.580delinsGA MANE Select NP_000268.1:p.Leu194AspfsTer6
NM_001354304.2:c.580delinsGA NP_001341233.1:p.Leu194AspfsTer6
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