Canonical Allele Identifier: CA2059456741
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866095_102866096delinsAC , CM000674.2:g.102866095_102866096delinsAC GRCh38
NC_000012.11:g.103259873_103259874delinsAC , CM000674.1:g.103259873_103259874delinsAC GRCh37
NC_000012.10:g.101784003_101784004delinsAC NCBI36
NG_008690.1:g.56507_56508delinsGT
NG_008690.2:g.97315_97316delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+500_509+501delinsGT MANE Select ENSP00000448059.1:n.509+500_509+501delinsGT
ENST00000307000.7:c.494+500_494+501delinsGT ENSP00000303500.2:n.494+500_494+501delinsGT
ENST00000549111.5:n.605+500_605+501delinsGT
ENST00000551988.5:n.531-10764_531-10763delinsGT
ENST00000553106.5:c.509+500_509+501delinsGT ENSP00000448059.1:n.509+500_509+501delinsGT
NM_000277.1:c.509+500_509+501delinsGT NP_000268.1:n.509+500_509+501delinsGT
XM_011538422.1:c.509+500_509+501delinsGT XP_011536724.1:n.509+500_509+501delinsGT
NM_000277.2:c.509+500_509+501delinsGT NP_000268.1:n.509+500_509+501delinsGT
NM_001354304.1:c.509+500_509+501delinsGT NP_001341233.1:n.509+500_509+501delinsGT
XM_017019370.2:c.509+500_509+501delinsGT XP_016874859.1:n.509+500_509+501delinsGT
NM_000277.3:c.509+500_509+501delinsGT MANE Select NP_000268.1:n.509+500_509+501delinsGT
NM_001354304.2:c.509+500_509+501delinsGT NP_001341233.1:n.509+500_509+501delinsGT
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