Canonical Allele Identifier: CA2663093846

Gene: PNKD

Linked Data

• gnomAD v4: 2-218270646-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270650del , CM000664.2:g.218270650del	GRCh38
NC_000002.11:g.219135373del , CM000664.1:g.219135373del	GRCh37
NC_000002.10:g.218843617del	NCBI36
NG_017060.1:g.5259del
NG_033036.1:g.4524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.67+48del	ENSP00000414400.3:n.67+48del
ENST00000472650.2:n.92+48del
ENST00000684905.1:n.78+48del
ENST00000685415.1:c.67+48del	ENSP00000510415.1:n.67+48del
ENST00000687736.1:c.67+48del	ENSP00000509627.1:n.67+48del
ENST00000688179.1:c.67+48del	ENSP00000508635.1:n.67+48del
ENST00000689816.1:c.67+48del	ENSP00000508450.1:n.67+48del
ENST00000690891.1:c.67+48del	ENSP00000509744.1:n.67+48del
ENST00000691220.1:c.67+48del	ENSP00000509580.1:n.67+48del
ENST00000691799.1:n.71-731del
ENST00000692260.1:n.82+48del
ENST00000273077.9:c.67+48del MANE Select	ENSP00000273077.4:n.67+48del
ENST00000248451.7:c.67+48del	ENSP00000248451.3:n.67+48del
ENST00000273077.8:c.67+48del	ENSP00000273077.4:n.67+48del
ENST00000469689.1:n.131del
NM_001077399.2:c.67+48del	NP_001070867.1:n.67+48del
NM_015488.4:c.67+48del	NP_056303.3:n.67+48del
XM_017003771.1:c.67+48del	XP_016859260.1:n.67+48del
NM_015488.5:c.67+48del MANE Select	NP_056303.3:n.67+48del
NM_001077399.3:c.67+48del	NP_001070867.1:n.67+48del