Canonical Allele Identifier: CA1139664386

Gene: PKD1

Linked Data

• ClinVar Variation Id: 974501
• ClinVar RCV Id: RCV001281269
• dbSNP Id: rs2092343785

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106578_2106589dup , CM000678.2:g.2106578_2106589dup	GRCh38
NC_000016.9:g.2156579_2156590dup , CM000678.1:g.2156579_2156590dup	GRCh37
NC_000016.8:g.2096580_2096591dup	NCBI36
NG_008617.1:g.34313_34324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7301_7312dup MANE Select	ENSP00000262304.4:p.Val2437_Leu2438insArgArgGlyVal
ENST00000262304.8:c.7301_7312dup	ENSP00000262304.4:p.Val2437_Leu2438insArgArgGlyVal
ENST00000415938.7:n.546_557dup
ENST00000423118.5:c.7301_7312dup	ENSP00000399501.1:p.Val2437_Leu2438insArgArgGlyVal
ENST00000483558.5:n.360_371dup
ENST00000483731.5:n.1026_1037dup
ENST00000486339.6:n.1047_1058dup
ENST00000487932.5:c.1988_1999dup	ENSP00000457132.1:p.Val666_Leu667insArgArgGlyVal
ENST00000496574.6:n.1304_1315dup
ENST00000565639.6:n.1009_1020dup
ENST00000568591.5:c.2462_2473dup	ENSP00000457162.1:n.2462_2473dup
ENST00000569983.5:n.657_668dup
NM_000296.3:c.7301_7312dup	NP_000287.3:p.Val2437_Leu2438insArgArgGlyVal
NM_001009944.2:c.7301_7312dup	NP_001009944.2:p.Val2437_Leu2438insArgArgGlyVal
XM_005255370.2:c.4256_4267dup	XP_005255427.1:p.Val1422_Leu1423insArgArgGlyVal
XM_011522525.1:c.7379_7390dup	XP_011520827.1:p.Val2463_Leu2464insArgArgGlyVal
XM_011522526.1:c.7379_7390dup	XP_011520828.1:p.Val2463_Leu2464insArgArgGlyVal
XM_011522527.1:c.7379_7390dup	XP_011520829.1:p.Val2463_Leu2464insArgArgGlyVal
XM_011522528.1:c.7355_7366dup	XP_011520830.1:p.Val2455_Leu2456insArgArgGlyVal
XM_011522529.1:c.7355_7366dup	XP_011520831.1:p.Val2455_Leu2456insArgArgGlyVal
XM_011522530.1:c.7325_7336dup	XP_011520832.1:p.Val2445_Leu2446insArgArgGlyVal
XM_011522531.1:c.7307_7318dup	XP_011520833.1:p.Val2439_Leu2440insArgArgGlyVal
XM_011522532.1:c.7253_7264dup	XP_011520834.1:p.Val2421_Leu2422insArgArgGlyVal
XM_011522533.1:c.7172_7183dup	XP_011520835.1:p.Val2394_Leu2395insArgArgGlyVal
XM_011522534.1:c.7115_7126dup	XP_011520836.1:p.Val2375_Leu2376insArgArgGlyVal
XM_011522535.1:c.5201_5212dup	XP_011520837.1:p.Val1737_Leu1738insArgArgGlyVal
XM_011522536.1:c.7379_7390dup	XP_011520838.1:p.Val2463_Leu2464insArgArgGlyVal
XM_011522537.1:c.4379_4390dup	XP_011520839.1:p.Val1463_Leu1464insArgArgGlyVal
XR_932867.1:n.7394_7405dup
XR_932868.1:n.7394_7405dup
XR_932869.1:n.7394_7405dup
XR_932870.1:n.7394_7405dup
XM_005255370.3:c.4256_4267dup	XP_005255427.1:p.Val1422_Leu1423insArgArgGlyVal
XM_011522528.3:c.7355_7366dup	XP_011520830.1:p.Val2455_Leu2456insArgArgGlyVal
XM_011522529.2:c.7355_7366dup	XP_011520831.1:p.Val2455_Leu2456insArgArgGlyVal
XM_011522537.2:c.4379_4390dup	XP_011520839.1:p.Val1463_Leu1464insArgArgGlyVal
XM_024450298.1:c.7421_7432dup	XP_024306066.1:p.Val2477_Leu2478insArgArgGlyVal
XM_024450299.1:c.7349_7360dup	XP_024306067.1:p.Val2453_Leu2454insArgArgGlyVal
XM_024450300.1:c.7211_7222dup	XP_024306068.1:p.Val2407_Leu2408insArgArgGlyVal
XM_024450301.1:c.5297_5308dup	XP_024306069.1:p.Val1769_Leu1770insArgArgGlyVal
NM_000296.4:c.7301_7312dup	NP_000287.4:p.Val2437_Leu2438insArgArgGlyVal
NM_001009944.3:c.7301_7312dup MANE Select	NP_001009944.3:p.Val2437_Leu2438insArgArgGlyVal