Canonical Allele Identifier: CA2104016

Gene: PNKD CATIP-AS2

Linked Data

• ClinVar Variation Id: 523930
• ClinVar RCV Id: RCV000627409 ; RCV000689092 ; RCV002053127 ; RCV002298713
• dbSNP Id: rs761519363
• ExAC: 2:219206314 CG / C
• gnomAD v2: 2-219206314-CG-C
• gnomAD v3: 2-218341591-CG-C
• gnomAD v4: 2-218341591-CG-C
• MyVariant Identifiers: chr2:g.219206317del (hg19) ; chr2:g.219206315del (hg19) ; chr2:g.218341594del (hg38) ; chr2:g.218341593del (hg38) ; chr2:g.218341592del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218341594del , CM000664.2:g.218341594del	GRCh38
NC_000002.11:g.219206317del , CM000664.1:g.219206317del	GRCh37
NC_000002.10:g.218914561del	NCBI36
NG_017060.1:g.76203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.576del (PNKD)	ENSP00000414400.3:p.Ser193AlafsTer?
ENST00000684905.1:n.1343del (PNKD)
ENST00000685415.1:c.702del (PNKD)	ENSP00000510415.1:p.Ser235AlafsTer?
ENST00000687736.1:c.525-387del (PNKD)	ENSP00000509627.1:n.525-387del
ENST00000688179.1:c.585del (PNKD)	ENSP00000508635.1:p.Ser196AlafsTer?
ENST00000689098.1:n.1249del (PNKD)
ENST00000689693.1:n.1382del (PNKD)
ENST00000689816.1:c.585del (PNKD)	ENSP00000508450.1:p.Ser196AlafsTer?
ENST00000690891.1:c.730del (PNKD)	ENSP00000509744.1:n.730del
ENST00000691220.1:c.237-387del (PNKD)	ENSP00000509580.1:n.237-387del
ENST00000691799.1:n.240-3214del (PNKD)
ENST00000692295.1:c.225del (PNKD)	ENSP00000509392.1:p.Ser76AlafsTer?
ENST00000693423.1:c.165-2861del (PNKD)	ENSP00000508705.1:n.165-2861del
ENST00000273077.9:c.585del (PNKD) MANE Select	ENSP00000273077.4:p.Ser196AlafsTer?
ENST00000258362.7:c.513del (PNKD)	ENSP00000258362.3:p.Ser172AlafsTer?
ENST00000273077.8:c.585del (PNKD)	ENSP00000273077.4:p.Ser196AlafsTer?
ENST00000436005.2:c.405del (PNKD)	ENSP00000414400.2:p.Ser136AlafsTer?
NM_015488.4:c.585del (PNKD)	NP_056303.3:p.Ser196AlafsTer?
NM_022572.4:c.513del (PNKD)	NP_072094.1:p.Ser172AlafsTer?
NR_125777.1:n.120+9568del (CATIP-AS2)
XM_017003771.1:c.585del (PNKD)	XP_016859260.1:p.Ser196AlafsTer?
XM_017003772.1:c.513del (PNKD)	XP_016859261.1:p.Ser172AlafsTer?
NM_015488.5:c.585del (PNKD) MANE Select	NP_056303.3:p.Ser196AlafsTer?