Canonical Allele Identifier: CA2573147930
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1392820
ClinVar RCV Id: RCV001912407
dbSNP Id: rs2136649216

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855155_102855353delinsTGG , CM000674.2:g.102855155_102855353delinsTGG GRCh38
NC_000012.11:g.103248933_103249131delinsTGG , CM000674.1:g.103248933_103249131delinsTGG GRCh37
NC_000012.10:g.101773063_101773261delinsTGG NCBI36
NG_008690.1:g.67250_67448delinsCCA
NG_008690.2:g.108058_108256delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-21_687delinsCCA
ENST00000307000.7:c.495-21_672delinsCCA
ENST00000549111.5:n.606-21_783delinsCCA
ENST00000553106.5:c.510-21_687delinsCCA
NM_000277.1:c.510-21_687delinsCCA
XM_011538422.1:c.510-21_687delinsCCA
NM_000277.2:c.510-21_687delinsCCA
NM_001354304.1:c.510-21_687delinsCCA
XM_017019370.2:c.510-21_687delinsCCA
NM_000277.3:c.510-21_687delinsCCA
NM_001354304.2:c.510-21_687delinsCCA