Canonical Allele Identifier: CA2695222231

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106565_2106567dup , CM000678.2:g.2106565_2106567dup	GRCh38
NC_000016.9:g.2156566_2156568dup , CM000678.1:g.2156566_2156568dup	GRCh37
NC_000016.8:g.2096567_2096569dup	NCBI36
NG_008617.1:g.34334_34336dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7322_7324dup MANE Select	ENSP00000262304.4:p.Gly2441_Glu2442insGly
ENST00000262304.8:c.7322_7324dup	ENSP00000262304.4:p.Gly2441_Glu2442insGly
ENST00000415938.7:n.567_569dup
ENST00000423118.5:c.7322_7324dup	ENSP00000399501.1:p.Gly2441_Glu2442insGly
ENST00000483558.5:n.381_383dup
ENST00000483731.5:n.1047_1049dup
ENST00000486339.6:n.1068_1070dup
ENST00000487932.5:c.2009_2011dup	ENSP00000457132.1:p.Gly670_Glu671insGly
ENST00000496574.6:n.1325_1327dup
ENST00000565639.6:n.1030_1032dup
ENST00000568591.5:c.2483_2485dup	ENSP00000457162.1:n.2483_2485dup
ENST00000569983.5:n.678_680dup
NM_000296.3:c.7322_7324dup	NP_000287.3:p.Gly2441_Glu2442insGly
NM_001009944.2:c.7322_7324dup	NP_001009944.2:p.Gly2441_Glu2442insGly
XM_005255370.2:c.4277_4279dup	XP_005255427.1:p.Gly1426_Glu1427insGly
XM_011522525.1:c.7400_7402dup	XP_011520827.1:p.Gly2467_Glu2468insGly
XM_011522526.1:c.7400_7402dup	XP_011520828.1:p.Gly2467_Glu2468insGly
XM_011522527.1:c.7400_7402dup	XP_011520829.1:p.Gly2467_Glu2468insGly
XM_011522528.1:c.7376_7378dup	XP_011520830.1:p.Gly2459_Glu2460insGly
XM_011522529.1:c.7376_7378dup	XP_011520831.1:p.Gly2459_Glu2460insGly
XM_011522530.1:c.7346_7348dup	XP_011520832.1:p.Gly2449_Glu2450insGly
XM_011522531.1:c.7328_7330dup	XP_011520833.1:p.Gly2443_Glu2444insGly
XM_011522532.1:c.7274_7276dup	XP_011520834.1:p.Gly2425_Glu2426insGly
XM_011522533.1:c.7193_7195dup	XP_011520835.1:p.Gly2398_Glu2399insGly
XM_011522534.1:c.7136_7138dup	XP_011520836.1:p.Gly2379_Glu2380insGly
XM_011522535.1:c.5222_5224dup	XP_011520837.1:p.Gly1741_Glu1742insGly
XM_011522536.1:c.7400_7402dup	XP_011520838.1:p.Gly2467_Glu2468insGly
XM_011522537.1:c.4400_4402dup	XP_011520839.1:p.Gly1467_Glu1468insGly
XR_932867.1:n.7415_7417dup
XR_932868.1:n.7415_7417dup
XR_932869.1:n.7415_7417dup
XR_932870.1:n.7415_7417dup
XM_005255370.3:c.4277_4279dup	XP_005255427.1:p.Gly1426_Glu1427insGly
XM_011522528.3:c.7376_7378dup	XP_011520830.1:p.Gly2459_Glu2460insGly
XM_011522529.2:c.7376_7378dup	XP_011520831.1:p.Gly2459_Glu2460insGly
XM_011522537.2:c.4400_4402dup	XP_011520839.1:p.Gly1467_Glu1468insGly
XM_024450298.1:c.7442_7444dup	XP_024306066.1:p.Gly2481_Glu2482insGly
XM_024450299.1:c.7370_7372dup	XP_024306067.1:p.Gly2457_Glu2458insGly
XM_024450300.1:c.7232_7234dup	XP_024306068.1:p.Gly2411_Glu2412insGly
XM_024450301.1:c.5318_5320dup	XP_024306069.1:p.Gly1773_Glu1774insGly
NM_000296.4:c.7322_7324dup	NP_000287.4:p.Gly2441_Glu2442insGly
NM_001009944.3:c.7322_7324dup MANE Select	NP_001009944.3:p.Gly2441_Glu2442insGly