Canonical Allele Identifier: CA2663093803

Gene: PNKD

Linked Data

• gnomAD v4: 2-218270624-A-ACGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270624_218270625insCGC , CM000664.2:g.218270624_218270625insCGC	GRCh38
NC_000002.11:g.219135347_219135348insCGC , CM000664.1:g.219135347_219135348insCGC	GRCh37
NC_000002.10:g.218843591_218843592insCGC	NCBI36
NG_017060.1:g.5233_5234insCGC
NG_033036.1:g.4546_4547insGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.67+22_67+23insCGC	ENSP00000414400.3:n.67+22_67+23insCGC
ENST00000472650.2:n.92+22_92+23insCGC
ENST00000684905.1:n.78+22_78+23insCGC
ENST00000685415.1:c.67+22_67+23insCGC	ENSP00000510415.1:n.67+22_67+23insCGC
ENST00000687736.1:c.67+22_67+23insCGC	ENSP00000509627.1:n.67+22_67+23insCGC
ENST00000688179.1:c.67+22_67+23insCGC	ENSP00000508635.1:n.67+22_67+23insCGC
ENST00000689816.1:c.67+22_67+23insCGC	ENSP00000508450.1:n.67+22_67+23insCGC
ENST00000690891.1:c.67+22_67+23insCGC	ENSP00000509744.1:n.67+22_67+23insCGC
ENST00000691220.1:c.67+22_67+23insCGC	ENSP00000509580.1:n.67+22_67+23insCGC
ENST00000691799.1:n.71-757_71-756insCGC
ENST00000692260.1:n.82+22_82+23insCGC
ENST00000273077.9:c.67+22_67+23insCGC MANE Select	ENSP00000273077.4:n.67+22_67+23insCGC
ENST00000248451.7:c.67+22_67+23insCGC	ENSP00000248451.3:n.67+22_67+23insCGC
ENST00000273077.8:c.67+22_67+23insCGC	ENSP00000273077.4:n.67+22_67+23insCGC
ENST00000469689.1:n.105_106insCGC
NM_001077399.2:c.67+22_67+23insCGC	NP_001070867.1:n.67+22_67+23insCGC
NM_015488.4:c.67+22_67+23insCGC	NP_056303.3:n.67+22_67+23insCGC
XM_017003771.1:c.67+22_67+23insCGC	XP_016859260.1:n.67+22_67+23insCGC
NM_015488.5:c.67+22_67+23insCGC MANE Select	NP_056303.3:n.67+22_67+23insCGC
NM_001077399.3:c.67+22_67+23insCGC	NP_001070867.1:n.67+22_67+23insCGC