Canonical Allele Identifier: CA2202035028

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106569_2106584delinsCCCGCAGCACGCCCCG , CM000678.2:g.2106569_2106584delinsCCCGCAGCACGCCCCG	GRCh38
NC_000016.9:g.2156570_2156585delinsCCCGCAGCACGCCCCG , CM000678.1:g.2156570_2156585delinsCCCGCAGCACGCCCCG	GRCh37
NC_000016.8:g.2096571_2096586delinsCCCGCAGCACGCCCCG	NCBI36
NG_008617.1:g.34315_34330delinsCGGGGCGTGCTGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7303_7318delinsCGGGGCGTGCTGCGGG MANE Select	ENSP00000262304.4:p.Arg2435=
ENST00000262304.8:c.7303_7318delinsCGGGGCGTGCTGCGGG	ENSP00000262304.4:p.Arg2435=
ENST00000415938.7:n.548_563delinsCGGGGCGTGCTGCGGG
ENST00000423118.5:c.7303_7318delinsCGGGGCGTGCTGCGGG	ENSP00000399501.1:p.Arg2435=
ENST00000483558.5:n.362_377delinsCGGGGCGTGCTGCGGG
ENST00000483731.5:n.1028_1043delinsCGGGGCGTGCTGCGGG
ENST00000486339.6:n.1049_1064delinsCGGGGCGTGCTGCGGG
ENST00000487932.5:c.1990_2005delinsCGGGGCGTGCTGCGGG	ENSP00000457132.1:p.Arg664=
ENST00000496574.6:n.1306_1321delinsCGGGGCGTGCTGCGGG
ENST00000565639.6:n.1011_1026delinsCGGGGCGTGCTGCGGG
ENST00000568591.5:c.2464_2479delinsCGGGGCGTGCTGCGGG	ENSP00000457162.1:n.2464_2479delinsCGGGGCGTGCTGCGGG
ENST00000569983.5:n.659_674delinsCGGGGCGTGCTGCGGG
NM_000296.3:c.7303_7318delinsCGGGGCGTGCTGCGGG	NP_000287.3:p.Arg2435=
NM_001009944.2:c.7303_7318delinsCGGGGCGTGCTGCGGG	NP_001009944.2:p.Arg2435=
XM_005255370.2:c.4258_4273delinsCGGGGCGTGCTGCGGG	XP_005255427.1:p.Arg1420=
XM_011522525.1:c.7381_7396delinsCGGGGCGTGCTGCGGG	XP_011520827.1:p.Arg2461=
XM_011522526.1:c.7381_7396delinsCGGGGCGTGCTGCGGG	XP_011520828.1:p.Arg2461=
XM_011522527.1:c.7381_7396delinsCGGGGCGTGCTGCGGG	XP_011520829.1:p.Arg2461=
XM_011522528.1:c.7357_7372delinsCGGGGCGTGCTGCGGG	XP_011520830.1:p.Arg2453=
XM_011522529.1:c.7357_7372delinsCGGGGCGTGCTGCGGG	XP_011520831.1:p.Arg2453=
XM_011522530.1:c.7327_7342delinsCGGGGCGTGCTGCGGG	XP_011520832.1:p.Arg2443=
XM_011522531.1:c.7309_7324delinsCGGGGCGTGCTGCGGG	XP_011520833.1:p.Arg2437=
XM_011522532.1:c.7255_7270delinsCGGGGCGTGCTGCGGG	XP_011520834.1:p.Arg2419=
XM_011522533.1:c.7174_7189delinsCGGGGCGTGCTGCGGG	XP_011520835.1:p.Arg2392=
XM_011522534.1:c.7117_7132delinsCGGGGCGTGCTGCGGG	XP_011520836.1:p.Arg2373=
XM_011522535.1:c.5203_5218delinsCGGGGCGTGCTGCGGG	XP_011520837.1:p.Arg1735=
XM_011522536.1:c.7381_7396delinsCGGGGCGTGCTGCGGG	XP_011520838.1:p.Arg2461=
XM_011522537.1:c.4381_4396delinsCGGGGCGTGCTGCGGG	XP_011520839.1:p.Arg1461=
XR_932867.1:n.7396_7411delinsCGGGGCGTGCTGCGGG
XR_932868.1:n.7396_7411delinsCGGGGCGTGCTGCGGG
XR_932869.1:n.7396_7411delinsCGGGGCGTGCTGCGGG
XR_932870.1:n.7396_7411delinsCGGGGCGTGCTGCGGG
XM_005255370.3:c.4258_4273delinsCGGGGCGTGCTGCGGG	XP_005255427.1:p.Arg1420=
XM_011522528.3:c.7357_7372delinsCGGGGCGTGCTGCGGG	XP_011520830.1:p.Arg2453=
XM_011522529.2:c.7357_7372delinsCGGGGCGTGCTGCGGG	XP_011520831.1:p.Arg2453=
XM_011522537.2:c.4381_4396delinsCGGGGCGTGCTGCGGG	XP_011520839.1:p.Arg1461=
XM_024450298.1:c.7423_7438delinsCGGGGCGTGCTGCGGG	XP_024306066.1:p.Arg2475=
XM_024450299.1:c.7351_7366delinsCGGGGCGTGCTGCGGG	XP_024306067.1:p.Arg2451=
XM_024450300.1:c.7213_7228delinsCGGGGCGTGCTGCGGG	XP_024306068.1:p.Arg2405=
XM_024450301.1:c.5299_5314delinsCGGGGCGTGCTGCGGG	XP_024306069.1:p.Arg1767=
NM_000296.4:c.7303_7318delinsCGGGGCGTGCTGCGGG	NP_000287.4:p.Arg2435=
NM_001009944.3:c.7303_7318delinsCGGGGCGTGCTGCGGG MANE Select	NP_001009944.3:p.Arg2435=