Canonical Allele Identifier: CA2841451815

Gene: PKD1 MIR6511B1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106677_2106678insGTGGG , CM000678.2:g.2106677_2106678insGTGGG	GRCh38
NC_000016.9:g.2156678_2156679insGTGGG , CM000678.1:g.2156678_2156679insGTGGG	GRCh37
NC_000016.8:g.2096679_2096680insGTGGG	NCBI36
NG_008617.1:g.34222_34223insCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7210_7211insCCACC (PKD1) MANE Select	ENSP00000262304.4:p.Arg2404ProfsTer?
ENST00000262304.8:c.7210_7211insCCACC (PKD1)	ENSP00000262304.4:p.Arg2404ProfsTer?
ENST00000415938.7:n.455_456insCCACC (PKD1)
ENST00000423118.5:c.7210_7211insCCACC (PKD1)	ENSP00000399501.1:p.Arg2404ProfsTer?
ENST00000483024.1:c.378_379insCCACC (PKD1)
ENST00000483558.5:n.269_270insCCACC (PKD1)
ENST00000483731.5:n.935_936insCCACC (PKD1)
ENST00000486339.6:n.956_957insCCACC (PKD1)
ENST00000487932.5:c.1897_1898insCCACC (PKD1)	ENSP00000457132.1:p.Arg633ProfsTer?
ENST00000496574.6:n.1213_1214insCCACC (PKD1)
ENST00000565639.6:n.918_919insCCACC (PKD1)
ENST00000568591.5:c.2371_2372insCCACC (PKD1)	ENSP00000457162.1:n.2371_2372insCCACC
ENST00000569983.5:n.566_567insCCACC (PKD1)
NM_000296.3:c.7210_7211insCCACC (PKD1)	NP_000287.3:p.Arg2404ProfsTer?
NM_001009944.2:c.7210_7211insCCACC (PKD1)	NP_001009944.2:p.Arg2404ProfsTer?
NR_106775.1:n.77_78insCCACC (MIR6511B1)
XM_005255370.2:c.4165_4166insCCACC (PKD1)	XP_005255427.1:p.Arg1389ProfsTer?
XM_011522525.1:c.7288_7289insCCACC (PKD1)	XP_011520827.1:p.Arg2430ProfsTer?
XM_011522526.1:c.7288_7289insCCACC (PKD1)	XP_011520828.1:p.Arg2430ProfsTer?
XM_011522527.1:c.7288_7289insCCACC (PKD1)	XP_011520829.1:p.Arg2430ProfsTer?
XM_011522528.1:c.7264_7265insCCACC (PKD1)	XP_011520830.1:p.Arg2422ProfsTer?
XM_011522529.1:c.7264_7265insCCACC (PKD1)	XP_011520831.1:p.Arg2422ProfsTer?
XM_011522530.1:c.7234_7235insCCACC (PKD1)	XP_011520832.1:p.Arg2412ProfsTer?
XM_011522531.1:c.7216_7217insCCACC (PKD1)	XP_011520833.1:p.Arg2406ProfsTer?
XM_011522532.1:c.7162_7163insCCACC (PKD1)	XP_011520834.1:p.Arg2388ProfsTer?
XM_011522533.1:c.7081_7082insCCACC (PKD1)	XP_011520835.1:p.Arg2361ProfsTer?
XM_011522534.1:c.7024_7025insCCACC (PKD1)	XP_011520836.1:p.Arg2342ProfsTer?
XM_011522535.1:c.5110_5111insCCACC (PKD1)	XP_011520837.1:p.Arg1704ProfsTer?
XM_011522536.1:c.7288_7289insCCACC (PKD1)	XP_011520838.1:p.Arg2430ProfsTer?
XM_011522537.1:c.4288_4289insCCACC (PKD1)	XP_011520839.1:p.Arg1430ProfsTer?
XR_932867.1:n.7303_7304insCCACC (PKD1)
XR_932868.1:n.7303_7304insCCACC (PKD1)
XR_932869.1:n.7303_7304insCCACC (PKD1)
XR_932870.1:n.7303_7304insCCACC (PKD1)
XM_005255370.3:c.4165_4166insCCACC (PKD1)	XP_005255427.1:p.Arg1389ProfsTer?
XM_011522528.3:c.7264_7265insCCACC (PKD1)	XP_011520830.1:p.Arg2422ProfsTer?
XM_011522529.2:c.7264_7265insCCACC (PKD1)	XP_011520831.1:p.Arg2422ProfsTer?
XM_011522537.2:c.4288_4289insCCACC (PKD1)	XP_011520839.1:p.Arg1430ProfsTer?
XM_024450298.1:c.7330_7331insCCACC (PKD1)	XP_024306066.1:p.Arg2444ProfsTer?
XM_024450299.1:c.7258_7259insCCACC (PKD1)	XP_024306067.1:p.Arg2420ProfsTer?
XM_024450300.1:c.7120_7121insCCACC (PKD1)	XP_024306068.1:p.Arg2374ProfsTer?
XM_024450301.1:c.5206_5207insCCACC (PKD1)	XP_024306069.1:p.Arg1736ProfsTer?
NM_000296.4:c.7210_7211insCCACC (PKD1)	NP_000287.4:p.Arg2404ProfsTer?
NM_001009944.3:c.7210_7211insCCACC (PKD1) MANE Select	NP_001009944.3:p.Arg2404ProfsTer?