Canonical Allele Identifier: CA2797243725
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844638_102844639insC , CM000674.2:g.102844638_102844639insC GRCh38
NC_000012.11:g.103238416_103238417insC , CM000674.1:g.103238416_103238417insC GRCh37
NC_000012.10:g.101762546_101762547insC NCBI36
NG_008690.1:g.77964_77965insG
NG_008690.2:g.118772_118773insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-208_970-207insG MANE Select ENSP00000448059.1:n.970-208_970-207insG
ENST00000307000.7:c.955-208_955-207insG ENSP00000303500.2:n.955-208_955-207insG
ENST00000549247.6:n.729-208_729-207insG
ENST00000551114.2:n.632-208_632-207insG
ENST00000553106.5:c.970-208_970-207insG ENSP00000448059.1:n.970-208_970-207insG
ENST00000635477.1:c.74-208_74-207insG
ENST00000635528.1:n.485-208_485-207insG
NM_000277.1:c.970-208_970-207insG NP_000268.1:n.970-208_970-207insG
XM_011538422.1:c.913-208_913-207insG XP_011536724.1:n.913-208_913-207insG
NM_000277.2:c.970-208_970-207insG NP_000268.1:n.970-208_970-207insG
NM_001354304.1:c.970-208_970-207insG NP_001341233.1:n.970-208_970-207insG
NM_000277.3:c.970-208_970-207insG MANE Select NP_000268.1:n.970-208_970-207insG
NM_001354304.2:c.970-208_970-207insG NP_001341233.1:n.970-208_970-207insG
Search 100 bp 5'
Search 100 bp 3'