Canonical Allele Identifier: CA2663093723

Gene: PNKD

Linked Data

• gnomAD v4: 2-218270572-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270572_218270573insA , CM000664.2:g.218270572_218270573insA	GRCh38
NC_000002.11:g.219135295_219135296insA , CM000664.1:g.219135295_219135296insA	GRCh37
NC_000002.10:g.218843539_218843540insA	NCBI36
NG_017060.1:g.5181_5182insA
NG_033036.1:g.4598_4599insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.37_38insA	ENSP00000414400.3:p.Arg13GlnfsTer19
ENST00000472650.2:n.62_63insA
ENST00000684905.1:n.48_49insA
ENST00000685415.1:c.37_38insA	ENSP00000510415.1:p.Arg13GlnfsTer19
ENST00000687736.1:c.37_38insA	ENSP00000509627.1:p.Arg13GlnfsTer19
ENST00000688179.1:c.37_38insA	ENSP00000508635.1:p.Arg13GlnfsTer19
ENST00000689816.1:c.37_38insA	ENSP00000508450.1:p.Arg13GlnfsTer19
ENST00000690891.1:c.37_38insA	ENSP00000509744.1:p.Arg13GlnfsTer19
ENST00000691220.1:c.37_38insA	ENSP00000509580.1:p.Arg13GlnfsTer19
ENST00000691799.1:n.71-809_71-808insA
ENST00000692260.1:n.52_53insA
ENST00000273077.9:c.37_38insA MANE Select	ENSP00000273077.4:p.Arg13GlnfsTer19
ENST00000248451.7:c.37_38insA	ENSP00000248451.3:p.Arg13GlnfsTer19
ENST00000273077.8:c.37_38insA	ENSP00000273077.4:p.Arg13GlnfsTer19
ENST00000469689.1:n.53_54insA
NM_001077399.2:c.37_38insA	NP_001070867.1:p.Arg13GlnfsTer19
NM_015488.4:c.37_38insA	NP_056303.3:p.Arg13GlnfsTer19
XM_017003771.1:c.37_38insA	XP_016859260.1:p.Arg13GlnfsTer19
NM_015488.5:c.37_38insA MANE Select	NP_056303.3:p.Arg13GlnfsTer19
NM_001077399.3:c.37_38insA	NP_001070867.1:p.Arg13GlnfsTer19