Canonical Allele Identifier: CA658798511

Gene: PKD1

Linked Data

• ClinVar Variation Id: 523389
• ClinVar RCV Id: RCV000626725 ; RCV002223892
• dbSNP Id: rs1555452876
• MyVariant Identifiers: chr16:g.2156223_2156225del (hg19) ; chr16:g.2106222_2106224del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106225_2106227del , CM000678.2:g.2106225_2106227del	GRCh38
NC_000016.9:g.2156226_2156228del , CM000678.1:g.2156226_2156228del	GRCh37
NC_000016.8:g.2096227_2096229del	NCBI36
NG_008617.1:g.34675_34677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7570_7572del MANE Select	ENSP00000262304.4:p.Glu2524del
ENST00000262304.8:c.7570_7572del	ENSP00000262304.4:p.Glu2524del
ENST00000415938.7:n.815_817del
ENST00000423118.5:c.7570_7572del	ENSP00000399501.1:p.Glu2524del
ENST00000483731.5:n.1295_1297del
ENST00000486339.6:n.1316_1318del
ENST00000487932.5:c.2257_2259del	ENSP00000457132.1:p.Glu753del
ENST00000496574.6:n.1573_1575del
ENST00000561991.5:n.92_94del
ENST00000564890.1:n.184_186del
ENST00000565639.6:n.1278_1280del
NM_000296.3:c.7570_7572del	NP_000287.3:p.Glu2524del
NM_001009944.2:c.7570_7572del	NP_001009944.2:p.Glu2524del
XM_005255370.2:c.4525_4527del	XP_005255427.1:p.Glu1509del
XM_011522525.1:c.7648_7650del	XP_011520827.1:p.Glu2550del
XM_011522526.1:c.7648_7650del	XP_011520828.1:p.Glu2550del
XM_011522527.1:c.7648_7650del	XP_011520829.1:p.Glu2550del
XM_011522528.1:c.7624_7626del	XP_011520830.1:p.Glu2542del
XM_011522529.1:c.7624_7626del	XP_011520831.1:p.Glu2542del
XM_011522530.1:c.7594_7596del	XP_011520832.1:p.Glu2532del
XM_011522531.1:c.7576_7578del	XP_011520833.1:p.Glu2526del
XM_011522532.1:c.7522_7524del	XP_011520834.1:p.Glu2508del
XM_011522533.1:c.7441_7443del	XP_011520835.1:p.Glu2481del
XM_011522534.1:c.7384_7386del	XP_011520836.1:p.Glu2462del
XM_011522535.1:c.5470_5472del	XP_011520837.1:p.Glu1824del
XM_011522536.1:c.7648_7650del	XP_011520838.1:p.Glu2550del
XM_011522537.1:c.4648_4650del	XP_011520839.1:p.Glu1550del
XR_932867.1:n.7663_7665del
XR_932868.1:n.7663_7665del
XR_932869.1:n.7663_7665del
XR_932870.1:n.7663_7665del
XM_005255370.3:c.4525_4527del	XP_005255427.1:p.Glu1509del
XM_011522528.3:c.7624_7626del	XP_011520830.1:p.Glu2542del
XM_011522529.2:c.7624_7626del	XP_011520831.1:p.Glu2542del
XM_011522537.2:c.4648_4650del	XP_011520839.1:p.Glu1550del
XM_024450298.1:c.7690_7692del	XP_024306066.1:p.Glu2564del
XM_024450299.1:c.7618_7620del	XP_024306067.1:p.Glu2540del
XM_024450300.1:c.7480_7482del	XP_024306068.1:p.Glu2494del
XM_024450301.1:c.5566_5568del	XP_024306069.1:p.Glu1856del
NM_000296.4:c.7570_7572del	NP_000287.4:p.Glu2524del
NM_001009944.3:c.7570_7572del MANE Select	NP_001009944.3:p.Glu2524del