Canonical Allele Identifier: CA2059466995
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894876_102894879delinsGAGA , CM000674.2:g.102894876_102894879delinsGAGA GRCh38
NC_000012.11:g.103288654_103288657delinsGAGA , CM000674.1:g.103288654_103288657delinsGAGA GRCh37
NC_000012.10:g.101812784_101812787delinsGAGA NCBI36
NG_008690.1:g.27724_27727delinsTCTC
NG_008690.2:g.68532_68535delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.208_211delinsTCTC MANE Select ENSP00000448059.1:p.Ser70=
ENST00000307000.7:c.193_196delinsTCTC ENSP00000303500.2:p.Ser65=
ENST00000546844.1:c.208_211delinsTCTC ENSP00000446658.1:p.Ser70=
ENST00000548677.2:n.295_298delinsTCTC
ENST00000548928.1:n.130_133delinsTCTC
ENST00000549111.5:n.304_307delinsTCTC
ENST00000550978.6:c.192_195delinsTCTC
ENST00000551337.5:c.208_211delinsTCTC ENSP00000447620.1:p.Ser70=
ENST00000551988.5:n.297_300delinsTCTC
ENST00000553106.5:c.208_211delinsTCTC ENSP00000448059.1:p.Ser70=
ENST00000635500.1:n.176_179delinsTCTC
NM_000277.1:c.208_211delinsTCTC NP_000268.1:p.Ser70=
XM_011538422.1:c.208_211delinsTCTC XP_011536724.1:p.Ser70=
NM_000277.2:c.208_211delinsTCTC NP_000268.1:p.Ser70=
NM_001354304.1:c.208_211delinsTCTC NP_001341233.1:p.Ser70=
XM_017019370.2:c.208_211delinsTCTC XP_016874859.1:p.Ser70=
NM_000277.3:c.208_211delinsTCTC MANE Select NP_000268.1:p.Ser70=
NM_001354304.2:c.208_211delinsTCTC NP_001341233.1:p.Ser70=