Canonical Allele Identifier: CA2059456967
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866594_102866595delinsAC , CM000674.2:g.102866594_102866595delinsAC GRCh38
NC_000012.11:g.103260372_103260373delinsAC , CM000674.1:g.103260372_103260373delinsAC GRCh37
NC_000012.10:g.101784502_101784503delinsAC NCBI36
NG_008690.1:g.56008_56009delinsGT
NG_008690.2:g.96816_96817delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+1_509+2delinsGT MANE Select ENSP00000448059.1:n.509+1_509+2delinsGT
ENST00000307000.7:c.494+1_494+2delinsGT ENSP00000303500.2:n.494+1_494+2delinsGT
ENST00000549111.5:n.605+1_605+2delinsGT
ENST00000551988.5:n.530+10867_530+10868delinsGT
ENST00000553106.5:c.509+1_509+2delinsGT ENSP00000448059.1:n.509+1_509+2delinsGT
NM_000277.1:c.509+1_509+2delinsGT NP_000268.1:n.509+1_509+2delinsGT
XM_011538422.1:c.509+1_509+2delinsGT XP_011536724.1:n.509+1_509+2delinsGT
NM_000277.2:c.509+1_509+2delinsGT NP_000268.1:n.509+1_509+2delinsGT
NM_001354304.1:c.509+1_509+2delinsGT NP_001341233.1:n.509+1_509+2delinsGT
XM_017019370.2:c.509+1_509+2delinsGT XP_016874859.1:n.509+1_509+2delinsGT
NM_000277.3:c.509+1_509+2delinsGT MANE Select NP_000268.1:n.509+1_509+2delinsGT
NM_001354304.2:c.509+1_509+2delinsGT NP_001341233.1:n.509+1_509+2delinsGT
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