Canonical Allele Identifier: CA2059446119
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852824_102852835delinsGTATACATGGGC , CM000674.2:g.102852824_102852835delinsGTATACATGGGC GRCh38
NC_000012.11:g.103246602_103246613delinsGTATACATGGGC , CM000674.1:g.103246602_103246613delinsGTATACATGGGC GRCh37
NC_000012.10:g.101770732_101770743delinsGTATACATGGGC NCBI36
NG_008690.1:g.69768_69779delinsGCCCATGTATAC
NG_008690.2:g.110576_110587delinsGCCCATGTATAC

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.822_833delinsGCCCATGTATAC MANE Select ENSP00000448059.1:p.Lys274=
ENST00000307000.7:c.807_818delinsGCCCATGTATAC ENSP00000303500.2:p.Lys269=
ENST00000549247.6:n.581_592delinsGCCCATGTATAC
ENST00000553106.5:c.822_833delinsGCCCATGTATAC ENSP00000448059.1:p.Lys274=
NM_000277.1:c.822_833delinsGCCCATGTATAC NP_000268.1:p.Lys274=
XM_011538422.1:c.822_833delinsGCCCATGTATAC XP_011536724.1:p.Lys274=
NM_000277.2:c.822_833delinsGCCCATGTATAC NP_000268.1:p.Lys274=
NM_001354304.1:c.822_833delinsGCCCATGTATAC NP_001341233.1:p.Lys274=
NM_000277.3:c.822_833delinsGCCCATGTATAC MANE Select NP_000268.1:p.Lys274=
NM_001354304.2:c.822_833delinsGCCCATGTATAC NP_001341233.1:p.Lys274=