Canonical Allele Identifier: CA2697549589

Gene: PKD1

Linked Data

• ClinVar Variation Id: 2683950
• ClinVar RCV Id: RCV003484551

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106636del , CM000678.2:g.2106636del	GRCh38
NC_000016.9:g.2156637del , CM000678.1:g.2156637del	GRCh37
NC_000016.8:g.2096638del	NCBI36
NG_008617.1:g.34264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7252del MANE Select	ENSP00000262304.4:p.Asp2418MetfsTer?
ENST00000262304.8:c.7252del	ENSP00000262304.4:p.Asp2418MetfsTer?
ENST00000415938.7:n.497del
ENST00000423118.5:c.7252del	ENSP00000399501.1:p.Asp2418MetfsTer?
ENST00000483024.1:c.420del
ENST00000483558.5:n.311del
ENST00000483731.5:n.977del
ENST00000486339.6:n.998del
ENST00000487932.5:c.1939del	ENSP00000457132.1:p.Asp647MetfsTer?
ENST00000496574.6:n.1255del
ENST00000565639.6:n.960del
ENST00000568591.5:c.2413del	ENSP00000457162.1:n.2413del
ENST00000569983.5:n.608del
NM_000296.3:c.7252del	NP_000287.3:p.Asp2418MetfsTer?
NM_001009944.2:c.7252del	NP_001009944.2:p.Asp2418MetfsTer?
XM_005255370.2:c.4207del	XP_005255427.1:p.Asp1403MetfsTer?
XM_011522525.1:c.7330del	XP_011520827.1:p.Asp2444MetfsTer?
XM_011522526.1:c.7330del	XP_011520828.1:p.Asp2444MetfsTer?
XM_011522527.1:c.7330del	XP_011520829.1:p.Asp2444MetfsTer?
XM_011522528.1:c.7306del	XP_011520830.1:p.Asp2436MetfsTer?
XM_011522529.1:c.7306del	XP_011520831.1:p.Asp2436MetfsTer?
XM_011522530.1:c.7276del	XP_011520832.1:p.Asp2426MetfsTer?
XM_011522531.1:c.7258del	XP_011520833.1:p.Asp2420MetfsTer?
XM_011522532.1:c.7204del	XP_011520834.1:p.Asp2402MetfsTer?
XM_011522533.1:c.7123del	XP_011520835.1:p.Asp2375MetfsTer?
XM_011522534.1:c.7066del	XP_011520836.1:p.Asp2356MetfsTer?
XM_011522535.1:c.5152del	XP_011520837.1:p.Asp1718MetfsTer?
XM_011522536.1:c.7330del	XP_011520838.1:p.Asp2444MetfsTer?
XM_011522537.1:c.4330del	XP_011520839.1:p.Asp1444MetfsTer?
XR_932867.1:n.7345del
XR_932868.1:n.7345del
XR_932869.1:n.7345del
XR_932870.1:n.7345del
XM_005255370.3:c.4207del	XP_005255427.1:p.Asp1403MetfsTer?
XM_011522528.3:c.7306del	XP_011520830.1:p.Asp2436MetfsTer?
XM_011522529.2:c.7306del	XP_011520831.1:p.Asp2436MetfsTer?
XM_011522537.2:c.4330del	XP_011520839.1:p.Asp1444MetfsTer?
XM_024450298.1:c.7372del	XP_024306066.1:p.Asp2458MetfsTer?
XM_024450299.1:c.7300del	XP_024306067.1:p.Asp2434MetfsTer?
XM_024450300.1:c.7162del	XP_024306068.1:p.Asp2388MetfsTer?
XM_024450301.1:c.5248del	XP_024306069.1:p.Asp1750MetfsTer?
NM_000296.4:c.7252del	NP_000287.4:p.Asp2418MetfsTer?
NM_001009944.3:c.7252del MANE Select	NP_001009944.3:p.Asp2418MetfsTer?