Canonical Allele Identifier: CA3030153461

Gene: PNKD

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218272735_218272736del , CM000664.2:g.218272735_218272736del	GRCh38
NC_000002.11:g.219137458_219137459del , CM000664.1:g.219137458_219137459del	GRCh37
NC_000002.10:g.218845702_218845703del	NCBI36
NG_017060.1:g.7344_7345del
NG_033036.1:g.2435_2436del

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.236+1186_236+1187del MANE Select	NP_056303.3:n.236+1186_236+1187del
ENST00000273077.9:c.236+1186_236+1187del MANE Select	ENSP00000273077.4:n.236+1186_236+1187del
NM_001077399.2:c.402_403del	NP_001070867.1:p.Asp135CysfsTer18
NM_001077399.3:c.402_403del	NP_001070867.1:p.Asp135CysfsTer18
NM_015488.4:c.236+1186_236+1187del	NP_056303.3:n.236+1186_236+1187del
ENST00000248451.7:c.402_403del	ENSP00000248451.3:p.Asp135CysfsTer18
ENST00000273077.8:c.236+1186_236+1187del	ENSP00000273077.4:n.236+1186_236+1187del
ENST00000436005.3:c.236+1186_236+1187del	ENSP00000414400.3:n.236+1186_236+1187del
ENST00000469689.1:n.1196_1197del
ENST00000472650.1:n.170+1186_170+1187del
ENST00000472650.2:n.261+1186_261+1187del
ENST00000684905.1:n.247+1186_247+1187del
ENST00000685415.1:c.353+49_353+50del	ENSP00000510415.1:n.353+49_353+50del
ENST00000687736.1:c.236+1186_236+1187del	ENSP00000509627.1:n.236+1186_236+1187del
ENST00000688179.1:c.236+1186_236+1187del	ENSP00000508635.1:n.236+1186_236+1187del
ENST00000689816.1:c.236+1186_236+1187del	ENSP00000508450.1:n.236+1186_236+1187del
ENST00000690891.1:c.236+1186_236+1187del	ENSP00000509744.1:n.236+1186_236+1187del
ENST00000691220.1:c.236+1186_236+1187del	ENSP00000509580.1:n.236+1186_236+1187del
ENST00000691799.1:n.239+1186_239+1187del
ENST00000692260.1:n.1437_1438del
XM_017003771.1:c.236+1186_236+1187del	XP_016859260.1:n.236+1186_236+1187del