Canonical Allele Identifier: CA2059456743
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866095_102866102delinsACCATCCT , CM000674.2:g.102866095_102866102delinsACCATCCT GRCh38
NC_000012.11:g.103259873_103259880delinsACCATCCT , CM000674.1:g.103259873_103259880delinsACCATCCT GRCh37
NC_000012.10:g.101784003_101784010delinsACCATCCT NCBI36
NG_008690.1:g.56501_56508delinsAGGATGGT
NG_008690.2:g.97309_97316delinsAGGATGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+494_509+501delinsAGGATGGT MANE Select ENSP00000448059.1:n.509+494_509+501delinsAGGATGGT
ENST00000307000.7:c.494+494_494+501delinsAGGATGGT ENSP00000303500.2:n.494+494_494+501delinsAGGATGGT
ENST00000549111.5:n.605+494_605+501delinsAGGATGGT
ENST00000551988.5:n.531-10770_531-10763delinsAGGATGGT
ENST00000553106.5:c.509+494_509+501delinsAGGATGGT ENSP00000448059.1:n.509+494_509+501delinsAGGATGGT
NM_000277.1:c.509+494_509+501delinsAGGATGGT NP_000268.1:n.509+494_509+501delinsAGGATGGT
XM_011538422.1:c.509+494_509+501delinsAGGATGGT XP_011536724.1:n.509+494_509+501delinsAGGATGGT
NM_000277.2:c.509+494_509+501delinsAGGATGGT NP_000268.1:n.509+494_509+501delinsAGGATGGT
NM_001354304.1:c.509+494_509+501delinsAGGATGGT NP_001341233.1:n.509+494_509+501delinsAGGATGGT
XM_017019370.2:c.509+494_509+501delinsAGGATGGT XP_016874859.1:n.509+494_509+501delinsAGGATGGT
NM_000277.3:c.509+494_509+501delinsAGGATGGT MANE Select NP_000268.1:n.509+494_509+501delinsAGGATGGT
NM_001354304.2:c.509+494_509+501delinsAGGATGGT NP_001341233.1:n.509+494_509+501delinsAGGATGGT
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