Canonical Allele Identifier: CA2999387982

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090442_2090444del , CM000678.2:g.2090442_2090444del	GRCh38
NC_000016.9:g.2140443_2140445del , CM000678.1:g.2140443_2140445del	GRCh37
NC_000016.8:g.2080444_2080446del	NCBI36
NG_005895.1:g.46137_46139del , LRG_487:g.46137_46139del
NG_008617.1:g.52778_52780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12286_12288del MANE Select	ENSP00000262304.4:p.Trp4096del
ENST00000262304.8:c.12286_12288del	ENSP00000262304.4:p.Trp4096del
ENST00000423118.5:c.12283_12285del	ENSP00000399501.1:p.Trp4095del
ENST00000472577.1:n.314_316del
NM_000296.3:c.12283_12285del	NP_000287.3:p.Trp4095del
NM_001009944.2:c.12286_12288del	NP_001009944.2:p.Trp4096del
XM_005255370.2:c.9241_9243del	XP_005255427.1:p.Trp3081del
XM_011522525.1:c.12364_12366del	XP_011520827.1:p.Trp4122del
XM_011522526.1:c.12361_12363del	XP_011520828.1:p.Trp4121del
XM_011522527.1:c.12346_12348del	XP_011520829.1:p.Trp4116del
XM_011522528.1:c.12340_12342del	XP_011520830.1:p.Trp4114del
XM_011522529.1:c.12337_12339del	XP_011520831.1:p.Trp4113del
XM_011522530.1:c.12310_12312del	XP_011520832.1:p.Trp4104del
XM_011522531.1:c.12292_12294del	XP_011520833.1:p.Trp4098del
XM_011522532.1:c.12238_12240del	XP_011520834.1:p.Trp4080del
XM_011522533.1:c.12157_12159del	XP_011520835.1:p.Trp4053del
XM_011522534.1:c.12100_12102del	XP_011520836.1:p.Trp4034del
XM_011522535.1:c.10186_10188del	XP_011520837.1:p.Trp3396del
XM_011522537.1:c.9364_9366del	XP_011520839.1:p.Trp3122del
XR_932867.1:n.12204_12206del
XM_005255370.3:c.9241_9243del	XP_005255427.1:p.Trp3081del
XM_011522528.3:c.12340_12342del	XP_011520830.1:p.Trp4114del
XM_011522529.2:c.12337_12339del	XP_011520831.1:p.Trp4113del
XM_011522537.2:c.9364_9366del	XP_011520839.1:p.Trp3122del
XM_024450298.1:c.12406_12408del	XP_024306066.1:p.Trp4136del
XM_024450299.1:c.12334_12336del	XP_024306067.1:p.Trp4112del
XM_024450300.1:c.12196_12198del	XP_024306068.1:p.Trp4066del
XM_024450301.1:c.10282_10284del	XP_024306069.1:p.Trp3428del
NM_000296.4:c.12283_12285del	NP_000287.4:p.Trp4095del
NM_001009944.3:c.12286_12288del MANE Select	NP_001009944.3:p.Trp4096del