Canonical Allele Identifier: CA2580614529
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2503911
ClinVar RCV Id: RCV003230902
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852922_102852924delinsTAG , CM000674.2:g.102852922_102852924delinsTAG GRCh38
NC_000012.11:g.103246700_103246702delinsTAG , CM000674.1:g.103246700_103246702delinsTAG GRCh37
NC_000012.10:g.101770830_101770832delinsTAG NCBI36
NG_008690.1:g.69679_69681delinsCTA
NG_008690.2:g.110487_110489delinsCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.733_735delinsCTA MANE Select ENSP00000448059.1:p.Val245Leu
ENST00000307000.7:c.718_720delinsCTA ENSP00000303500.2:p.Val240Leu
ENST00000549247.6:n.492_494delinsCTA
ENST00000553106.5:c.733_735delinsCTA ENSP00000448059.1:p.Val245Leu
NM_000277.1:c.733_735delinsCTA NP_000268.1:p.Val245Leu
XM_011538422.1:c.733_735delinsCTA XP_011536724.1:p.Val245Leu
NM_000277.2:c.733_735delinsCTA NP_000268.1:p.Val245Leu
NM_001354304.1:c.733_735delinsCTA NP_001341233.1:p.Val245Leu
NM_000277.3:c.733_735delinsCTA MANE Select NP_000268.1:p.Val245Leu
NM_001354304.2:c.733_735delinsCTA NP_001341233.1:p.Val245Leu
Search 100 bp 5'
Search 100 bp 3'