Canonical Allele Identifier: CA916084430
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1065384
ClinVar RCV Id: RCV001375904

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851253_102856067del , CM000674.2:g.102851253_102856067del GRCh38
NC_000012.11:g.103245031_103249845del , CM000674.1:g.103245031_103249845del GRCh37
NC_000012.10:g.101769161_101773975del NCBI36
NG_008690.2:g.107344_112158del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-735_912+434del
ENST00000307000.7:c.495-735_897+434del
ENST00000553106.5:c.510-735_912+434del
XM_011538422.1:c.510-735_912+434del
NM_000277.2:c.510-735_912+434del
NM_001354304.1:c.510-735_912+434del
NM_000277.3:c.510-735_912+434del
NM_001354304.2:c.510-735_912+434del