Canonical Allele Identifier: CA913184971
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 805811
ClinVar RCV Id: RCV000993628
dbSNP Id: rs1592978986

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894902_102894903insTCAG , CM000674.2:g.102894902_102894903insTCAG GRCh38
NC_000012.11:g.103288680_103288681insTCAG , CM000674.1:g.103288680_103288681insTCAG GRCh37
NC_000012.10:g.101812810_101812811insTCAG NCBI36
NG_008690.1:g.27700_27701insCTGA
NG_008690.2:g.68508_68509insCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.184_185insCTGA MANE Select ENSP00000448059.1:p.Leu62ProfsTer6
ENST00000307000.7:c.169_170insCTGA ENSP00000303500.2:p.Leu57ProfsTer6
ENST00000546844.1:c.184_185insCTGA ENSP00000446658.1:p.Leu62ProfsTer6
ENST00000548677.2:n.271_272insCTGA
ENST00000548928.1:n.106_107insCTGA
ENST00000549111.5:n.280_281insCTGA
ENST00000550978.6:c.168_169insCTGA
ENST00000551337.5:c.184_185insCTGA ENSP00000447620.1:p.Leu62ProfsTer6
ENST00000551988.5:n.273_274insCTGA
ENST00000553106.5:c.184_185insCTGA ENSP00000448059.1:p.Leu62ProfsTer6
ENST00000635500.1:n.152_153insCTGA
NM_000277.1:c.184_185insCTGA NP_000268.1:p.Leu62ProfsTer6
XM_011538422.1:c.184_185insCTGA XP_011536724.1:p.Leu62ProfsTer6
NM_000277.2:c.184_185insCTGA NP_000268.1:p.Leu62ProfsTer6
NM_001354304.1:c.184_185insCTGA NP_001341233.1:p.Leu62ProfsTer6
XM_017019370.2:c.184_185insCTGA XP_016874859.1:p.Leu62ProfsTer6
NM_000277.3:c.184_185insCTGA MANE Select NP_000268.1:p.Leu62ProfsTer6
NM_001354304.2:c.184_185insCTGA NP_001341233.1:p.Leu62ProfsTer6