Canonical Allele Identifier: CA2695222251

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106596_2106597delinsTGCAG , CM000678.2:g.2106596_2106597delinsTGCAG	GRCh38
NC_000016.9:g.2156597_2156598delinsTGCAG , CM000678.1:g.2156597_2156598delinsTGCAG	GRCh37
NC_000016.8:g.2096598_2096599delinsTGCAG	NCBI36
NG_008617.1:g.34302_34303delinsCTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7290_7291delinsCTGCA MANE Select	ENSP00000262304.4:p.Leu2431delinsCysMet
ENST00000262304.8:c.7290_7291delinsCTGCA	ENSP00000262304.4:p.Leu2431delinsCysMet
ENST00000415938.7:n.535_536delinsCTGCA
ENST00000423118.5:c.7290_7291delinsCTGCA	ENSP00000399501.1:p.Leu2431delinsCysMet
ENST00000483024.1:c.458_459delinsCTGCA
ENST00000483558.5:n.349_350delinsCTGCA
ENST00000483731.5:n.1015_1016delinsCTGCA
ENST00000486339.6:n.1036_1037delinsCTGCA
ENST00000487932.5:c.1977_1978delinsCTGCA	ENSP00000457132.1:p.Leu660delinsCysMet
ENST00000496574.6:n.1293_1294delinsCTGCA
ENST00000565639.6:n.998_999delinsCTGCA
ENST00000568591.5:c.2451_2452delinsCTGCA	ENSP00000457162.1:n.2451_2452delinsCTGCA
ENST00000569983.5:n.646_647delinsCTGCA
NM_000296.3:c.7290_7291delinsCTGCA	NP_000287.3:p.Leu2431delinsCysMet
NM_001009944.2:c.7290_7291delinsCTGCA	NP_001009944.2:p.Leu2431delinsCysMet
XM_005255370.2:c.4245_4246delinsCTGCA	XP_005255427.1:p.Leu1416delinsCysMet
XM_011522525.1:c.7368_7369delinsCTGCA	XP_011520827.1:p.Leu2457delinsCysMet
XM_011522526.1:c.7368_7369delinsCTGCA	XP_011520828.1:p.Leu2457delinsCysMet
XM_011522527.1:c.7368_7369delinsCTGCA	XP_011520829.1:p.Leu2457delinsCysMet
XM_011522528.1:c.7344_7345delinsCTGCA	XP_011520830.1:p.Leu2449delinsCysMet
XM_011522529.1:c.7344_7345delinsCTGCA	XP_011520831.1:p.Leu2449delinsCysMet
XM_011522530.1:c.7314_7315delinsCTGCA	XP_011520832.1:p.Leu2439delinsCysMet
XM_011522531.1:c.7296_7297delinsCTGCA	XP_011520833.1:p.Leu2433delinsCysMet
XM_011522532.1:c.7242_7243delinsCTGCA	XP_011520834.1:p.Leu2415delinsCysMet
XM_011522533.1:c.7161_7162delinsCTGCA	XP_011520835.1:p.Leu2388delinsCysMet
XM_011522534.1:c.7104_7105delinsCTGCA	XP_011520836.1:p.Leu2369delinsCysMet
XM_011522535.1:c.5190_5191delinsCTGCA	XP_011520837.1:p.Leu1731delinsCysMet
XM_011522536.1:c.7368_7369delinsCTGCA	XP_011520838.1:p.Leu2457delinsCysMet
XM_011522537.1:c.4368_4369delinsCTGCA	XP_011520839.1:p.Leu1457delinsCysMet
XR_932867.1:n.7383_7384delinsCTGCA
XR_932868.1:n.7383_7384delinsCTGCA
XR_932869.1:n.7383_7384delinsCTGCA
XR_932870.1:n.7383_7384delinsCTGCA
XM_005255370.3:c.4245_4246delinsCTGCA	XP_005255427.1:p.Leu1416delinsCysMet
XM_011522528.3:c.7344_7345delinsCTGCA	XP_011520830.1:p.Leu2449delinsCysMet
XM_011522529.2:c.7344_7345delinsCTGCA	XP_011520831.1:p.Leu2449delinsCysMet
XM_011522537.2:c.4368_4369delinsCTGCA	XP_011520839.1:p.Leu1457delinsCysMet
XM_024450298.1:c.7410_7411delinsCTGCA	XP_024306066.1:p.Leu2471delinsCysMet
XM_024450299.1:c.7338_7339delinsCTGCA	XP_024306067.1:p.Leu2447delinsCysMet
XM_024450300.1:c.7200_7201delinsCTGCA	XP_024306068.1:p.Leu2401delinsCysMet
XM_024450301.1:c.5286_5287delinsCTGCA	XP_024306069.1:p.Leu1763delinsCysMet
NM_000296.4:c.7290_7291delinsCTGCA	NP_000287.4:p.Leu2431delinsCysMet
NM_001009944.3:c.7290_7291delinsCTGCA MANE Select	NP_001009944.3:p.Leu2431delinsCysMet