Canonical Allele Identifier: CA891843788

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 8197
• ClinVar RCV Id: RCV000008680
• dbSNP Id: rs1567154953
• MyVariant Identifiers: chr16:g.2142487_2142501del (hg19) ; chr16:g.2092486_2092500del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092493_2092507del , CM000678.2:g.2092493_2092507del	GRCh38
NC_000016.9:g.2142494_2142508del , CM000678.1:g.2142494_2142508del	GRCh37
NC_000016.8:g.2082495_2082509del	NCBI36
NG_008617.1:g.50721_50735del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11249_11263del (PKD1) MANE Select	ENSP00000262304.4:p.Arg3750_Leu3754del
ENST00000262304.8:c.11249_11263del (PKD1)	ENSP00000262304.4:p.Arg3750_Leu3754del
ENST00000423118.5:c.11246_11260del (PKD1)	ENSP00000399501.1:p.Arg3749_Leu3753del
ENST00000485120.1:n.98_112del (PKD1)
ENST00000487932.5:c.5811_5825del (PKD1)	ENSP00000457132.1:n.5811_5825del
ENST00000562425.1:c.362_376del (PKD1)
ENST00000567355.1:n.412_426del (PKD1)
NM_000296.3:c.11246_11260del (PKD1)	NP_000287.3:p.Arg3749_Leu3753del
NM_001009944.2:c.11249_11263del (PKD1)	NP_001009944.2:p.Arg3750_Leu3754del
XM_005255370.2:c.8204_8218del (PKD1)	XP_005255427.1:p.Arg2735_Leu2739del
XM_011522525.1:c.11327_11341del (PKD1)	XP_011520827.1:p.Arg3776_Leu3780del
XM_011522526.1:c.11324_11338del (PKD1)	XP_011520828.1:p.Arg3775_Leu3779del
XM_011522527.1:c.11309_11323del (PKD1)	XP_011520829.1:p.Arg3770_Leu3774del
XM_011522528.1:c.11303_11317del (PKD1)	XP_011520830.1:p.Arg3768_Leu3772del
XM_011522529.1:c.11300_11314del (PKD1)	XP_011520831.1:p.Arg3767_Leu3771del
XM_011522530.1:c.11273_11287del (PKD1)	XP_011520832.1:p.Arg3758_Leu3762del
XM_011522531.1:c.11255_11269del (PKD1)	XP_011520833.1:p.Arg3752_Leu3756del
XM_011522532.1:c.11201_11215del (PKD1)	XP_011520834.1:p.Arg3734_Leu3738del
XM_011522533.1:c.11120_11134del (PKD1)	XP_011520835.1:p.Arg3707_Leu3711del
XM_011522534.1:c.11063_11077del (PKD1)	XP_011520836.1:p.Arg3688_Leu3692del
XM_011522535.1:c.9149_9163del (PKD1)	XP_011520837.1:p.Arg3050_Leu3054del
XM_011522537.1:c.8327_8341del (PKD1)	XP_011520839.1:p.Arg2776_Leu2780del
XR_932867.1:n.11342_11356del (PKD1)
XR_932868.1:n.11110-312_11110-298del (PKD1)
XR_932869.1:n.11110-312_11110-298del (PKD1)
XR_932870.1:n.11202_11216del (PKD1)
XR_933000.1:n.90-396_90-382del (PKD1-AS1)
XR_933001.1:n.180-396_180-382del (PKD1-AS1)
XR_933002.1:n.89-396_89-382del (PKD1-AS1)
XR_933003.1:n.89-396_89-382del (PKD1-AS1)
NR_135175.1:n.180-396_180-382del (PKD1-AS1)
XM_005255370.3:c.8204_8218del (PKD1)	XP_005255427.1:p.Arg2735_Leu2739del
XM_011522528.3:c.11303_11317del (PKD1)	XP_011520830.1:p.Arg3768_Leu3772del
XM_011522529.2:c.11300_11314del (PKD1)	XP_011520831.1:p.Arg3767_Leu3771del
XM_011522537.2:c.8327_8341del (PKD1)	XP_011520839.1:p.Arg2776_Leu2780del
XM_024450298.1:c.11369_11383del (PKD1)	XP_024306066.1:p.Arg3790_Leu3794del
XM_024450299.1:c.11297_11311del (PKD1)	XP_024306067.1:p.Arg3766_Leu3770del
XM_024450300.1:c.11159_11173del (PKD1)	XP_024306068.1:p.Arg3720_Leu3724del
XM_024450301.1:c.9245_9259del (PKD1)	XP_024306069.1:p.Arg3082_Leu3086del
NM_000296.4:c.11246_11260del (PKD1)	NP_000287.4:p.Arg3749_Leu3753del
NM_001009944.3:c.11249_11263del (PKD1) MANE Select	NP_001009944.3:p.Arg3750_Leu3754del