Canonical Allele Identifier: CA350543061

Gene: PNKD CATIP-AS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218344572T>G , CM000664.2:g.218344572T>G	GRCh38
NC_000002.11:g.219209295T>G , CM000664.1:g.219209295T>G	GRCh37
NC_000002.10:g.218917539T>G	NCBI36
NG_017060.1:g.79181T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015488.5:c.984+2T>G (PNKD) MANE Select	NP_056303.3:n.984+2T>G
ENST00000273077.9:c.984+2T>G (PNKD) MANE Select	ENSP00000273077.4:n.984+2T>G
NM_015488.4:c.984+2T>G (PNKD)	NP_056303.3:n.984+2T>G
NM_022572.4:c.912+2T>G (PNKD)	NP_072094.1:n.912+2T>G
NR_125777.1:n.120+6588A>C (CATIP-AS2)
ENST00000258362.7:c.912+2T>G (PNKD)	ENSP00000258362.3:n.912+2T>G
ENST00000273077.8:c.984+2T>G (PNKD)	ENSP00000273077.4:n.984+2T>G
ENST00000436005.2:c.804+2T>G (PNKD)	ENSP00000414400.2:n.804+2T>G
ENST00000436005.3:c.975+2T>G (PNKD)	ENSP00000414400.3:n.975+2T>G
ENST00000684905.1:n.1742+2T>G (PNKD)
ENST00000685415.1:c.1101+2T>G (PNKD)	ENSP00000510415.1:n.1101+2T>G
ENST00000687736.1:c.804+2T>G (PNKD)	ENSP00000509627.1:n.804+2T>G
ENST00000688179.1:c.861+2T>G (PNKD)	ENSP00000508635.1:n.861+2T>G
ENST00000689098.1:n.1648+2T>G (PNKD)
ENST00000689693.1:n.1781+2T>G (PNKD)
ENST00000689816.1:c.948+2T>G (PNKD)	ENSP00000508450.1:n.948+2T>G
ENST00000690891.1:c.1129+2T>G (PNKD)	ENSP00000509744.1:n.1129+2T>G
ENST00000691220.1:c.603+2T>G (PNKD)	ENSP00000509580.1:n.603+2T>G
ENST00000691799.1:n.240-236T>G (PNKD)
ENST00000692295.1:c.624+2T>G (PNKD)	ENSP00000509392.1:n.624+2T>G
ENST00000693423.1:c.*109+2T>G (PNKD)	ENSP00000508705.1:n.*109+2T>G
ENST00000693556.1:n.306+2T>G (PNKD)
XM_017003771.1:c.897+2T>G (PNKD)	XP_016859260.1:n.897+2T>G
XM_017003772.1:c.825+2T>G (PNKD)	XP_016859261.1:n.825+2T>G