Canonical Allele Identifier: CA2104082

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218342156C>G , CM000664.2:g.218342156C>G	GRCh38
NC_000002.11:g.219206879C>G , CM000664.1:g.219206879C>G	GRCh37
NC_000002.10:g.218915123C>G	NCBI36
NG_017060.1:g.76765C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.781+12C>G (PNKD) MANE Select	NP_056303.3:n.781+12C>G
ENST00000273077.9:c.781+12C>G (PNKD) MANE Select	ENSP00000273077.4:n.781+12C>G
NM_015488.4:c.781+12C>G (PNKD)	NP_056303.3:n.781+12C>G
NM_022572.4:c.709+12C>G (PNKD)	NP_072094.1:n.709+12C>G
NR_125777.1:n.120+9004G>C (CATIP-AS2)
ENST00000258362.7:c.709+12C>G (PNKD)	ENSP00000258362.3:n.709+12C>G
ENST00000273077.8:c.781+12C>G (PNKD)	ENSP00000273077.4:n.781+12C>G
ENST00000436005.2:c.601+12C>G (PNKD)	ENSP00000414400.2:n.601+12C>G
ENST00000436005.3:c.772+12C>G (PNKD)	ENSP00000414400.3:n.772+12C>G
ENST00000684905.1:n.1539+12C>G (PNKD)
ENST00000685415.1:c.898+12C>G (PNKD)	ENSP00000510415.1:n.898+12C>G
ENST00000687736.1:c.688+12C>G (PNKD)	ENSP00000509627.1:n.688+12C>G
ENST00000688179.1:c.781+12C>G (PNKD)	ENSP00000508635.1:n.781+12C>G
ENST00000689098.1:n.1445+12C>G (PNKD)
ENST00000689693.1:n.1578+12C>G (PNKD)
ENST00000689816.1:c.781+12C>G (PNKD)	ENSP00000508450.1:n.781+12C>G
ENST00000690891.1:c.926+12C>G (PNKD)	ENSP00000509744.1:n.926+12C>G
ENST00000691220.1:c.400+12C>G (PNKD)	ENSP00000509580.1:n.400+12C>G
ENST00000691799.1:n.240-2652C>G (PNKD)
ENST00000692295.1:c.421+12C>G (PNKD)	ENSP00000509392.1:n.421+12C>G
ENST00000693423.1:c.165-2299C>G (PNKD)	ENSP00000508705.1:n.165-2299C>G
ENST00000693556.1:n.190+12C>G (PNKD)
XM_017003771.1:c.781+12C>G (PNKD)	XP_016859260.1:n.781+12C>G
XM_017003772.1:c.709+12C>G (PNKD)	XP_016859261.1:n.709+12C>G