Canonical Allele Identifier: CA658658385

Gene: PKD1

Linked Data

• ClinVar Variation Id: 448969
• ClinVar RCV Id: RCV000520500 ; RCV003409741
• dbSNP Id: rs1555457807
• MyVariant Identifiers: chr16:g.2164392_2164393insCAGGG (hg19) ; chr16:g.2114391_2114392insCAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114400_2114404dup , CM000678.2:g.2114400_2114404dup	GRCh38
NC_000016.9:g.2164401_2164405dup , CM000678.1:g.2164401_2164405dup	GRCh37
NC_000016.8:g.2104402_2104406dup	NCBI36
NG_008617.1:g.26503_26507dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2627_2631dup MANE Select	ENSP00000262304.4:p.Val878ProfsTer22
ENST00000262304.8:c.2627_2631dup	ENSP00000262304.4:p.Val878ProfsTer22
ENST00000423118.5:c.2627_2631dup	ENSP00000399501.1:p.Val878ProfsTer22
ENST00000488185.2:c.472+3093_472+3097dup
ENST00000565639.6:n.86_90dup
ENST00000568591.5:c.1558_1562dup	ENSP00000457162.1:n.1558_1562dup
NM_000296.3:c.2627_2631dup	NP_000287.3:p.Val878ProfsTer22
NM_001009944.2:c.2627_2631dup	NP_001009944.2:p.Val878ProfsTer22
XM_011522525.1:c.2681_2685dup	XP_011520827.1:p.Val896ProfsTer22
XM_011522526.1:c.2681_2685dup	XP_011520828.1:p.Val896ProfsTer22
XM_011522527.1:c.2681_2685dup	XP_011520829.1:p.Val896ProfsTer22
XM_011522528.1:c.2681_2685dup	XP_011520830.1:p.Val896ProfsTer22
XM_011522529.1:c.2681_2685dup	XP_011520831.1:p.Val896ProfsTer22
XM_011522530.1:c.2627_2631dup	XP_011520832.1:p.Val878ProfsTer22
XM_011522531.1:c.2609_2613dup	XP_011520833.1:p.Val872ProfsTer22
XM_011522532.1:c.2555_2559dup	XP_011520834.1:p.Val854ProfsTer22
XM_011522533.1:c.2474_2478dup	XP_011520835.1:p.Val827ProfsTer22
XM_011522534.1:c.2417_2421dup	XP_011520836.1:p.Val808ProfsTer22
XM_011522535.1:c.503_507dup	XP_011520837.1:p.Val170ProfsTer22
XM_011522536.1:c.2681_2685dup	XP_011520838.1:p.Val896ProfsTer22
XR_932867.1:n.2696_2700dup
XR_932868.1:n.2696_2700dup
XR_932869.1:n.2696_2700dup
XR_932870.1:n.2696_2700dup
XM_005255370.3:c.-423_-419dup	XP_005255427.1:n.-423_-419dup
XM_011522528.3:c.2681_2685dup	XP_011520830.1:p.Val896ProfsTer22
XM_011522529.2:c.2681_2685dup	XP_011520831.1:p.Val896ProfsTer22
XM_024450298.1:c.2627_2631dup	XP_024306066.1:p.Val878ProfsTer22
XM_024450299.1:c.2555_2559dup	XP_024306067.1:p.Val854ProfsTer22
XM_024450300.1:c.2417_2421dup	XP_024306068.1:p.Val808ProfsTer22
XM_024450301.1:c.503_507dup	XP_024306069.1:p.Val170ProfsTer22
NM_000296.4:c.2627_2631dup	NP_000287.4:p.Val878ProfsTer22
NM_001009944.3:c.2627_2631dup MANE Select	NP_001009944.3:p.Val878ProfsTer22