Canonical Allele Identifier: CA2059451350
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846922_102846923delinsAG , CM000674.2:g.102846922_102846923delinsAG GRCh38
NC_000012.11:g.103240700_103240701delinsAG , CM000674.1:g.103240700_103240701delinsAG GRCh37
NC_000012.10:g.101764830_101764831delinsAG NCBI36
NG_008690.1:g.75680_75681delinsCT
NG_008690.2:g.116488_116489delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.941_942delinsCT MANE Select ENSP00000448059.1:p.Pro314=
ENST00000307000.7:c.926_927delinsCT ENSP00000303500.2:p.Pro309=
ENST00000549247.6:n.700_701delinsCT
ENST00000551114.2:n.603_604delinsCT
ENST00000553106.5:c.941_942delinsCT ENSP00000448059.1:p.Pro314=
ENST00000635477.1:c.74-2492_74-2491delinsCT
ENST00000635528.1:n.456_457delinsCT
NM_000277.1:c.941_942delinsCT NP_000268.1:p.Pro314=
XM_011538422.1:c.913-2492_913-2491delinsCT XP_011536724.1:n.913-2492_913-2491delinsCT
NM_000277.2:c.941_942delinsCT NP_000268.1:p.Pro314=
NM_001354304.1:c.941_942delinsCT NP_001341233.1:p.Pro314=
NM_000277.3:c.941_942delinsCT MANE Select NP_000268.1:p.Pro314=
NM_001354304.2:c.941_942delinsCT NP_001341233.1:p.Pro314=
Search 100 bp 5'
Search 100 bp 3'