Canonical Allele Identifier: CA2631131824

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111665-GGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111667_2111669del , CM000678.2:g.2111667_2111669del	GRCh38
NC_000016.9:g.2161668_2161670del , CM000678.1:g.2161668_2161670del	GRCh37
NC_000016.8:g.2101669_2101671del	NCBI36
NG_008617.1:g.29231_29233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3499_3501del MANE Select	ENSP00000262304.4:p.Ser1167del
ENST00000262304.8:c.3499_3501del	ENSP00000262304.4:p.Ser1167del
ENST00000415938.7:n.310+672_310+674del
ENST00000423118.5:c.3499_3501del	ENSP00000399501.1:p.Ser1167del
ENST00000468674.5:n.430+672_430+674del
ENST00000469241.2:n.449_451del
ENST00000483024.1:c.233+148_233+150del
ENST00000483731.5:n.790+672_790+674del
ENST00000488185.2:c.473-3310_473-3308del
ENST00000565639.6:n.773+672_773+674del
ENST00000568591.5:c.2226+672_2226+674del	ENSP00000457162.1:n.2226+672_2226+674del
ENST00000569983.5:n.421+672_421+674del
NM_000296.3:c.3499_3501del	NP_000287.3:p.Ser1167del
NM_001009944.2:c.3499_3501del	NP_001009944.2:p.Ser1167del
XM_005255370.2:c.454_456del	XP_005255427.1:p.Ser152del
XM_011522525.1:c.3577_3579del	XP_011520827.1:p.Ser1193del
XM_011522526.1:c.3577_3579del	XP_011520828.1:p.Ser1193del
XM_011522527.1:c.3577_3579del	XP_011520829.1:p.Ser1193del
XM_011522528.1:c.3553_3555del	XP_011520830.1:p.Ser1185del
XM_011522529.1:c.3553_3555del	XP_011520831.1:p.Ser1185del
XM_011522530.1:c.3523_3525del	XP_011520832.1:p.Ser1175del
XM_011522531.1:c.3505_3507del	XP_011520833.1:p.Ser1169del
XM_011522532.1:c.3451_3453del	XP_011520834.1:p.Ser1151del
XM_011522533.1:c.3370_3372del	XP_011520835.1:p.Ser1124del
XM_011522534.1:c.3313_3315del	XP_011520836.1:p.Ser1105del
XM_011522535.1:c.1399_1401del	XP_011520837.1:p.Ser467del
XM_011522536.1:c.3577_3579del	XP_011520838.1:p.Ser1193del
XM_011522537.1:c.577_579del	XP_011520839.1:p.Ser193del
XR_932867.1:n.3592_3594del
XR_932868.1:n.3592_3594del
XR_932869.1:n.3592_3594del
XR_932870.1:n.3592_3594del
XM_005255370.3:c.454_456del	XP_005255427.1:p.Ser152del
XM_011522528.3:c.3553_3555del	XP_011520830.1:p.Ser1185del
XM_011522529.2:c.3553_3555del	XP_011520831.1:p.Ser1185del
XM_011522537.2:c.577_579del	XP_011520839.1:p.Ser193del
XM_024450298.1:c.3619_3621del	XP_024306066.1:p.Ser1207del
XM_024450299.1:c.3547_3549del	XP_024306067.1:p.Ser1183del
XM_024450300.1:c.3409_3411del	XP_024306068.1:p.Ser1137del
XM_024450301.1:c.1495_1497del	XP_024306069.1:p.Ser499del
NM_000296.4:c.3499_3501del	NP_000287.4:p.Ser1167del
NM_001009944.3:c.3499_3501del MANE Select	NP_001009944.3:p.Ser1167del