Canonical Allele Identifier: CA2202047693

Gene: PKD1

Linked Data

• dbSNP Id: rs2092506955

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111586_2111588del , CM000678.2:g.2111586_2111588del	GRCh38
NC_000016.9:g.2161587_2161589del , CM000678.1:g.2161587_2161589del	GRCh37
NC_000016.8:g.2101588_2101590del	NCBI36
NG_008617.1:g.29316_29318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3584_3586del MANE Select	ENSP00000262304.4:p.Asn1195del
ENST00000262304.8:c.3584_3586del	ENSP00000262304.4:p.Asn1195del
ENST00000415938.7:n.310+757_310+759del
ENST00000423118.5:c.3584_3586del	ENSP00000399501.1:p.Asn1195del
ENST00000468674.5:n.430+757_430+759del
ENST00000469241.2:n.534_536del
ENST00000483024.1:c.233+233_233+235del
ENST00000483731.5:n.790+757_790+759del
ENST00000488185.2:c.473-3225_473-3223del
ENST00000565639.6:n.773+757_773+759del
ENST00000568591.5:c.2226+757_2226+759del	ENSP00000457162.1:n.2226+757_2226+759del
ENST00000569983.5:n.421+757_421+759del
NM_000296.3:c.3584_3586del	NP_000287.3:p.Asn1195del
NM_001009944.2:c.3584_3586del	NP_001009944.2:p.Asn1195del
XM_005255370.2:c.539_541del	XP_005255427.1:p.Asn180del
XM_011522525.1:c.3662_3664del	XP_011520827.1:p.Asn1221del
XM_011522526.1:c.3662_3664del	XP_011520828.1:p.Asn1221del
XM_011522527.1:c.3662_3664del	XP_011520829.1:p.Asn1221del
XM_011522528.1:c.3638_3640del	XP_011520830.1:p.Asn1213del
XM_011522529.1:c.3638_3640del	XP_011520831.1:p.Asn1213del
XM_011522530.1:c.3608_3610del	XP_011520832.1:p.Asn1203del
XM_011522531.1:c.3590_3592del	XP_011520833.1:p.Asn1197del
XM_011522532.1:c.3536_3538del	XP_011520834.1:p.Asn1179del
XM_011522533.1:c.3455_3457del	XP_011520835.1:p.Asn1152del
XM_011522534.1:c.3398_3400del	XP_011520836.1:p.Asn1133del
XM_011522535.1:c.1484_1486del	XP_011520837.1:p.Asn495del
XM_011522536.1:c.3662_3664del	XP_011520838.1:p.Asn1221del
XM_011522537.1:c.662_664del	XP_011520839.1:p.Asn221del
XR_932867.1:n.3677_3679del
XR_932868.1:n.3677_3679del
XR_932869.1:n.3677_3679del
XR_932870.1:n.3677_3679del
XM_005255370.3:c.539_541del	XP_005255427.1:p.Asn180del
XM_011522528.3:c.3638_3640del	XP_011520830.1:p.Asn1213del
XM_011522529.2:c.3638_3640del	XP_011520831.1:p.Asn1213del
XM_011522537.2:c.662_664del	XP_011520839.1:p.Asn221del
XM_024450298.1:c.3704_3706del	XP_024306066.1:p.Asn1235del
XM_024450299.1:c.3632_3634del	XP_024306067.1:p.Asn1211del
XM_024450300.1:c.3494_3496del	XP_024306068.1:p.Asn1165del
XM_024450301.1:c.1580_1582del	XP_024306069.1:p.Asn527del
NM_000296.4:c.3584_3586del	NP_000287.4:p.Asn1195del
NM_001009944.3:c.3584_3586del MANE Select	NP_001009944.3:p.Asn1195del