Canonical Allele Identifier: CA1139664387

Gene: PKD1

Linked Data

• ClinVar Variation Id: 974500
• ClinVar RCV Id: RCV001281268
• dbSNP Id: rs2092345946

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106638dup , CM000678.2:g.2106638dup	GRCh38
NC_000016.9:g.2156639dup , CM000678.1:g.2156639dup	GRCh37
NC_000016.8:g.2096640dup	NCBI36
NG_008617.1:g.34261dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7249dup MANE Select	ENSP00000262304.4:p.Leu2417ProfsTer3
ENST00000262304.8:c.7249dup	ENSP00000262304.4:p.Leu2417ProfsTer3
ENST00000415938.7:n.494dup
ENST00000423118.5:c.7249dup	ENSP00000399501.1:p.Leu2417ProfsTer3
ENST00000483024.1:c.417dup
ENST00000483558.5:n.308dup
ENST00000483731.5:n.974dup
ENST00000486339.6:n.995dup
ENST00000487932.5:c.1936dup	ENSP00000457132.1:p.Leu646ProfsTer3
ENST00000496574.6:n.1252dup
ENST00000565639.6:n.957dup
ENST00000568591.5:c.2410dup	ENSP00000457162.1:n.2410dup
ENST00000569983.5:n.605dup
NM_000296.3:c.7249dup	NP_000287.3:p.Leu2417ProfsTer3
NM_001009944.2:c.7249dup	NP_001009944.2:p.Leu2417ProfsTer3
XM_005255370.2:c.4204dup	XP_005255427.1:p.Leu1402ProfsTer3
XM_011522525.1:c.7327dup	XP_011520827.1:p.Leu2443ProfsTer3
XM_011522526.1:c.7327dup	XP_011520828.1:p.Leu2443ProfsTer3
XM_011522527.1:c.7327dup	XP_011520829.1:p.Leu2443ProfsTer3
XM_011522528.1:c.7303dup	XP_011520830.1:p.Leu2435ProfsTer3
XM_011522529.1:c.7303dup	XP_011520831.1:p.Leu2435ProfsTer3
XM_011522530.1:c.7273dup	XP_011520832.1:p.Leu2425ProfsTer3
XM_011522531.1:c.7255dup	XP_011520833.1:p.Leu2419ProfsTer3
XM_011522532.1:c.7201dup	XP_011520834.1:p.Leu2401ProfsTer3
XM_011522533.1:c.7120dup	XP_011520835.1:p.Leu2374ProfsTer3
XM_011522534.1:c.7063dup	XP_011520836.1:p.Leu2355ProfsTer3
XM_011522535.1:c.5149dup	XP_011520837.1:p.Leu1717ProfsTer3
XM_011522536.1:c.7327dup	XP_011520838.1:p.Leu2443ProfsTer3
XM_011522537.1:c.4327dup	XP_011520839.1:p.Leu1443ProfsTer3
XR_932867.1:n.7342dup
XR_932868.1:n.7342dup
XR_932869.1:n.7342dup
XR_932870.1:n.7342dup
XM_005255370.3:c.4204dup	XP_005255427.1:p.Leu1402ProfsTer3
XM_011522528.3:c.7303dup	XP_011520830.1:p.Leu2435ProfsTer3
XM_011522529.2:c.7303dup	XP_011520831.1:p.Leu2435ProfsTer3
XM_011522537.2:c.4327dup	XP_011520839.1:p.Leu1443ProfsTer3
XM_024450298.1:c.7369dup	XP_024306066.1:p.Leu2457ProfsTer3
XM_024450299.1:c.7297dup	XP_024306067.1:p.Leu2433ProfsTer3
XM_024450300.1:c.7159dup	XP_024306068.1:p.Leu2387ProfsTer3
XM_024450301.1:c.5245dup	XP_024306069.1:p.Leu1749ProfsTer3
NM_000296.4:c.7249dup	NP_000287.4:p.Leu2417ProfsTer3
NM_001009944.3:c.7249dup MANE Select	NP_001009944.3:p.Leu2417ProfsTer3