Canonical Allele Identifier: CA2586971315

Gene: PNKD

Linked Data

• gnomAD v4: 2-218270599-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270603del , CM000664.2:g.218270603del	GRCh38
NC_000002.11:g.219135326del , CM000664.1:g.219135326del	GRCh37
NC_000002.10:g.218843570del	NCBI36
NG_017060.1:g.5212del
NG_033036.1:g.4571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.67+1del
ENST00000472650.2:n.92+1del
ENST00000684905.1:n.78+1del
ENST00000685415.1:c.67+1del
ENST00000687736.1:c.67+1del
ENST00000688179.1:c.67+1del
ENST00000689816.1:c.67+1del
ENST00000690891.1:c.67+1del
ENST00000691220.1:c.67+1del
ENST00000691799.1:n.71-778del
ENST00000692260.1:n.82+1del
ENST00000273077.9:c.67+1del
ENST00000248451.7:c.67+1del
ENST00000273077.8:c.67+1del
ENST00000469689.1:n.84del
NM_001077399.2:c.67+1del
NM_015488.4:c.67+1del
XM_017003771.1:c.67+1del
NM_015488.5:c.67+1del
NM_001077399.3:c.67+1del