Canonical Allele Identifier: CA2740098074

Gene: PKD1

Linked Data

• ClinVar Variation Id: 3066207
• ClinVar RCV Id: RCV003991211

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111582_2111583del , CM000678.2:g.2111582_2111583del	GRCh38
NC_000016.9:g.2161583_2161584del , CM000678.1:g.2161583_2161584del	GRCh37
NC_000016.8:g.2101584_2101585del	NCBI36
NG_008617.1:g.29318_29319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3586_3587del MANE Select	ENSP00000262304.4:p.Thr1196GlyfsTer14
ENST00000262304.8:c.3586_3587del	ENSP00000262304.4:p.Thr1196GlyfsTer14
ENST00000415938.7:n.310+759_310+760del
ENST00000423118.5:c.3586_3587del	ENSP00000399501.1:p.Thr1196GlyfsTer14
ENST00000468674.5:n.430+759_430+760del
ENST00000469241.2:n.536_537del
ENST00000483024.1:c.233+235_233+236del
ENST00000483731.5:n.790+759_790+760del
ENST00000488185.2:c.473-3223_473-3222del
ENST00000565639.6:n.773+759_773+760del
ENST00000568591.5:c.2226+759_2226+760del	ENSP00000457162.1:n.2226+759_2226+760del
ENST00000569983.5:n.421+759_421+760del
NM_000296.3:c.3586_3587del	NP_000287.3:p.Thr1196GlyfsTer14
NM_001009944.2:c.3586_3587del	NP_001009944.2:p.Thr1196GlyfsTer14
XM_005255370.2:c.541_542del	XP_005255427.1:p.Thr181GlyfsTer14
XM_011522525.1:c.3664_3665del	XP_011520827.1:p.Thr1222GlyfsTer14
XM_011522526.1:c.3664_3665del	XP_011520828.1:p.Thr1222GlyfsTer14
XM_011522527.1:c.3664_3665del	XP_011520829.1:p.Thr1222GlyfsTer14
XM_011522528.1:c.3640_3641del	XP_011520830.1:p.Thr1214GlyfsTer14
XM_011522529.1:c.3640_3641del	XP_011520831.1:p.Thr1214GlyfsTer14
XM_011522530.1:c.3610_3611del	XP_011520832.1:p.Thr1204GlyfsTer14
XM_011522531.1:c.3592_3593del	XP_011520833.1:p.Thr1198GlyfsTer14
XM_011522532.1:c.3538_3539del	XP_011520834.1:p.Thr1180GlyfsTer14
XM_011522533.1:c.3457_3458del	XP_011520835.1:p.Thr1153GlyfsTer14
XM_011522534.1:c.3400_3401del	XP_011520836.1:p.Thr1134GlyfsTer14
XM_011522535.1:c.1486_1487del	XP_011520837.1:p.Thr496GlyfsTer14
XM_011522536.1:c.3664_3665del	XP_011520838.1:p.Thr1222GlyfsTer14
XM_011522537.1:c.664_665del	XP_011520839.1:p.Thr222GlyfsTer14
XR_932867.1:n.3679_3680del
XR_932868.1:n.3679_3680del
XR_932869.1:n.3679_3680del
XR_932870.1:n.3679_3680del
XM_005255370.3:c.541_542del	XP_005255427.1:p.Thr181GlyfsTer14
XM_011522528.3:c.3640_3641del	XP_011520830.1:p.Thr1214GlyfsTer14
XM_011522529.2:c.3640_3641del	XP_011520831.1:p.Thr1214GlyfsTer14
XM_011522537.2:c.664_665del	XP_011520839.1:p.Thr222GlyfsTer14
XM_024450298.1:c.3706_3707del	XP_024306066.1:p.Thr1236GlyfsTer14
XM_024450299.1:c.3634_3635del	XP_024306067.1:p.Thr1212GlyfsTer14
XM_024450300.1:c.3496_3497del	XP_024306068.1:p.Thr1166GlyfsTer14
XM_024450301.1:c.1582_1583del	XP_024306069.1:p.Thr528GlyfsTer14
NM_000296.4:c.3586_3587del	NP_000287.4:p.Thr1196GlyfsTer14
NM_001009944.3:c.3586_3587del MANE Select	NP_001009944.3:p.Thr1196GlyfsTer14