Canonical Allele Identifier: CA2631137778

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106568-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106571del , CM000678.2:g.2106571del	GRCh38
NC_000016.9:g.2156572del , CM000678.1:g.2156572del	GRCh37
NC_000016.8:g.2096573del	NCBI36
NG_008617.1:g.34330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7318del MANE Select	ENSP00000262304.4:p.Asp2440ThrfsTer?
ENST00000262304.8:c.7318del	ENSP00000262304.4:p.Asp2440ThrfsTer?
ENST00000415938.7:n.563del
ENST00000423118.5:c.7318del	ENSP00000399501.1:p.Asp2440ThrfsTer?
ENST00000483558.5:n.377del
ENST00000483731.5:n.1043del
ENST00000486339.6:n.1064del
ENST00000487932.5:c.2005del	ENSP00000457132.1:p.Asp669ThrfsTer?
ENST00000496574.6:n.1321del
ENST00000565639.6:n.1026del
ENST00000568591.5:c.2479del	ENSP00000457162.1:n.2479del
ENST00000569983.5:n.674del
NM_000296.3:c.7318del	NP_000287.3:p.Asp2440ThrfsTer?
NM_001009944.2:c.7318del	NP_001009944.2:p.Asp2440ThrfsTer?
XM_005255370.2:c.4273del	XP_005255427.1:p.Asp1425ThrfsTer?
XM_011522525.1:c.7396del	XP_011520827.1:p.Asp2466ThrfsTer?
XM_011522526.1:c.7396del	XP_011520828.1:p.Asp2466ThrfsTer?
XM_011522527.1:c.7396del	XP_011520829.1:p.Asp2466ThrfsTer?
XM_011522528.1:c.7372del	XP_011520830.1:p.Asp2458ThrfsTer?
XM_011522529.1:c.7372del	XP_011520831.1:p.Asp2458ThrfsTer?
XM_011522530.1:c.7342del	XP_011520832.1:p.Asp2448ThrfsTer?
XM_011522531.1:c.7324del	XP_011520833.1:p.Asp2442ThrfsTer?
XM_011522532.1:c.7270del	XP_011520834.1:p.Asp2424ThrfsTer?
XM_011522533.1:c.7189del	XP_011520835.1:p.Asp2397ThrfsTer?
XM_011522534.1:c.7132del	XP_011520836.1:p.Asp2378ThrfsTer?
XM_011522535.1:c.5218del	XP_011520837.1:p.Asp1740ThrfsTer?
XM_011522536.1:c.7396del	XP_011520838.1:p.Asp2466ThrfsTer?
XM_011522537.1:c.4396del	XP_011520839.1:p.Asp1466ThrfsTer?
XR_932867.1:n.7411del
XR_932868.1:n.7411del
XR_932869.1:n.7411del
XR_932870.1:n.7411del
XM_005255370.3:c.4273del	XP_005255427.1:p.Asp1425ThrfsTer?
XM_011522528.3:c.7372del	XP_011520830.1:p.Asp2458ThrfsTer?
XM_011522529.2:c.7372del	XP_011520831.1:p.Asp2458ThrfsTer?
XM_011522537.2:c.4396del	XP_011520839.1:p.Asp1466ThrfsTer?
XM_024450298.1:c.7438del	XP_024306066.1:p.Asp2480ThrfsTer?
XM_024450299.1:c.7366del	XP_024306067.1:p.Asp2456ThrfsTer?
XM_024450300.1:c.7228del	XP_024306068.1:p.Asp2410ThrfsTer?
XM_024450301.1:c.5314del	XP_024306069.1:p.Asp1772ThrfsTer?
NM_000296.4:c.7318del	NP_000287.4:p.Asp2440ThrfsTer?
NM_001009944.3:c.7318del MANE Select	NP_001009944.3:p.Asp2440ThrfsTer?