Canonical Allele Identifier: CA2575878505

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106579-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106583del , CM000678.2:g.2106583del	GRCh38
NC_000016.9:g.2156584del , CM000678.1:g.2156584del	GRCh37
NC_000016.8:g.2096585del	NCBI36
NG_008617.1:g.34319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7307del MANE Select	ENSP00000262304.4:p.Gly2436AlafsTer?
ENST00000262304.8:c.7307del	ENSP00000262304.4:p.Gly2436AlafsTer?
ENST00000415938.7:n.552del
ENST00000423118.5:c.7307del	ENSP00000399501.1:p.Gly2436AlafsTer?
ENST00000483558.5:n.366del
ENST00000483731.5:n.1032del
ENST00000486339.6:n.1053del
ENST00000487932.5:c.1994del	ENSP00000457132.1:p.Gly665AlafsTer?
ENST00000496574.6:n.1310del
ENST00000565639.6:n.1015del
ENST00000568591.5:c.2468del	ENSP00000457162.1:n.2468del
ENST00000569983.5:n.663del
NM_000296.3:c.7307del	NP_000287.3:p.Gly2436AlafsTer?
NM_001009944.2:c.7307del	NP_001009944.2:p.Gly2436AlafsTer?
XM_005255370.2:c.4262del	XP_005255427.1:p.Gly1421AlafsTer?
XM_011522525.1:c.7385del	XP_011520827.1:p.Gly2462AlafsTer?
XM_011522526.1:c.7385del	XP_011520828.1:p.Gly2462AlafsTer?
XM_011522527.1:c.7385del	XP_011520829.1:p.Gly2462AlafsTer?
XM_011522528.1:c.7361del	XP_011520830.1:p.Gly2454AlafsTer?
XM_011522529.1:c.7361del	XP_011520831.1:p.Gly2454AlafsTer?
XM_011522530.1:c.7331del	XP_011520832.1:p.Gly2444AlafsTer?
XM_011522531.1:c.7313del	XP_011520833.1:p.Gly2438AlafsTer?
XM_011522532.1:c.7259del	XP_011520834.1:p.Gly2420AlafsTer?
XM_011522533.1:c.7178del	XP_011520835.1:p.Gly2393AlafsTer?
XM_011522534.1:c.7121del	XP_011520836.1:p.Gly2374AlafsTer?
XM_011522535.1:c.5207del	XP_011520837.1:p.Gly1736AlafsTer?
XM_011522536.1:c.7385del	XP_011520838.1:p.Gly2462AlafsTer?
XM_011522537.1:c.4385del	XP_011520839.1:p.Gly1462AlafsTer?
XR_932867.1:n.7400del
XR_932868.1:n.7400del
XR_932869.1:n.7400del
XR_932870.1:n.7400del
XM_005255370.3:c.4262del	XP_005255427.1:p.Gly1421AlafsTer?
XM_011522528.3:c.7361del	XP_011520830.1:p.Gly2454AlafsTer?
XM_011522529.2:c.7361del	XP_011520831.1:p.Gly2454AlafsTer?
XM_011522537.2:c.4385del	XP_011520839.1:p.Gly1462AlafsTer?
XM_024450298.1:c.7427del	XP_024306066.1:p.Gly2476AlafsTer?
XM_024450299.1:c.7355del	XP_024306067.1:p.Gly2452AlafsTer?
XM_024450300.1:c.7217del	XP_024306068.1:p.Gly2406AlafsTer?
XM_024450301.1:c.5303del	XP_024306069.1:p.Gly1768AlafsTer?
NM_000296.4:c.7307del	NP_000287.4:p.Gly2436AlafsTer?
NM_001009944.3:c.7307del MANE Select	NP_001009944.3:p.Gly2436AlafsTer?