Canonical Allele Identifier: CA1474562322

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008089_88008097delinsGCCCGGGCA , CM000666.2:g.88008089_88008097delinsGCCCGGGCA	GRCh38
NC_000004.11:g.88929241_88929249delinsGCCCGGGCA , CM000666.1:g.88929241_88929249delinsGCCCGGGCA	GRCh37
NC_000004.10:g.89148265_89148273delinsGCCCGGGCA	NCBI36
NG_008604.1:g.5422_5430delinsGCCCGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.356_364delinsGCCCGGGCA MANE Select	ENSP00000237596.2:p.Arg119=
ENST00000237596.6:c.356_364delinsGCCCGGGCA	ENSP00000237596.2:p.Arg119=
NM_000297.3:c.356_364delinsGCCCGGGCA	NP_000288.1:p.Arg119=
XM_011532028.1:c.356_364delinsGCCCGGGCA	XP_011530330.1:p.Arg119=
XR_244632.2:n.451_459delinsGCCCGGGCA
NR_156488.1:n.443_451delinsGCCCGGGCA
XM_011532028.2:c.356_364delinsGCCCGGGCA	XP_011530330.1:p.Arg119=
NM_000297.4:c.356_364delinsGCCCGGGCA MANE Select	NP_000288.1:p.Arg119=
NR_156488.2:n.455_463delinsGCCCGGGCA