Canonical Allele Identifier: CA2575878508

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106652_2106654del , CM000678.2:g.2106652_2106654del	GRCh38
NC_000016.9:g.2156653_2156655del , CM000678.1:g.2156653_2156655del	GRCh37
NC_000016.8:g.2096654_2096656del	NCBI36
NG_008617.1:g.34248_34250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7236_7238del MANE Select	ENSP00000262304.4:p.Asn2412del
ENST00000262304.8:c.7236_7238del	ENSP00000262304.4:p.Asn2412del
ENST00000415938.7:n.481_483del
ENST00000423118.5:c.7236_7238del	ENSP00000399501.1:p.Asn2412del
ENST00000483024.1:c.404_406del
ENST00000483558.5:n.295_297del
ENST00000483731.5:n.961_963del
ENST00000486339.6:n.982_984del
ENST00000487932.5:c.1923_1925del	ENSP00000457132.1:p.Asn641del
ENST00000496574.6:n.1239_1241del
ENST00000565639.6:n.944_946del
ENST00000568591.5:c.2397_2399del	ENSP00000457162.1:n.2397_2399del
ENST00000569983.5:n.592_594del
NM_000296.3:c.7236_7238del	NP_000287.3:p.Asn2412del
NM_001009944.2:c.7236_7238del	NP_001009944.2:p.Asn2412del
XM_005255370.2:c.4191_4193del	XP_005255427.1:p.Asn1397del
XM_011522525.1:c.7314_7316del	XP_011520827.1:p.Asn2438del
XM_011522526.1:c.7314_7316del	XP_011520828.1:p.Asn2438del
XM_011522527.1:c.7314_7316del	XP_011520829.1:p.Asn2438del
XM_011522528.1:c.7290_7292del	XP_011520830.1:p.Asn2430del
XM_011522529.1:c.7290_7292del	XP_011520831.1:p.Asn2430del
XM_011522530.1:c.7260_7262del	XP_011520832.1:p.Asn2420del
XM_011522531.1:c.7242_7244del	XP_011520833.1:p.Asn2414del
XM_011522532.1:c.7188_7190del	XP_011520834.1:p.Asn2396del
XM_011522533.1:c.7107_7109del	XP_011520835.1:p.Asn2369del
XM_011522534.1:c.7050_7052del	XP_011520836.1:p.Asn2350del
XM_011522535.1:c.5136_5138del	XP_011520837.1:p.Asn1712del
XM_011522536.1:c.7314_7316del	XP_011520838.1:p.Asn2438del
XM_011522537.1:c.4314_4316del	XP_011520839.1:p.Asn1438del
XR_932867.1:n.7329_7331del
XR_932868.1:n.7329_7331del
XR_932869.1:n.7329_7331del
XR_932870.1:n.7329_7331del
XM_005255370.3:c.4191_4193del	XP_005255427.1:p.Asn1397del
XM_011522528.3:c.7290_7292del	XP_011520830.1:p.Asn2430del
XM_011522529.2:c.7290_7292del	XP_011520831.1:p.Asn2430del
XM_011522537.2:c.4314_4316del	XP_011520839.1:p.Asn1438del
XM_024450298.1:c.7356_7358del	XP_024306066.1:p.Asn2452del
XM_024450299.1:c.7284_7286del	XP_024306067.1:p.Asn2428del
XM_024450300.1:c.7146_7148del	XP_024306068.1:p.Asn2382del
XM_024450301.1:c.5232_5234del	XP_024306069.1:p.Asn1744del
NM_000296.4:c.7236_7238del	NP_000287.4:p.Asn2412del
NM_001009944.3:c.7236_7238del MANE Select	NP_001009944.3:p.Asn2412del