Canonical Allele Identifier: CA913191019

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090020_2090047del , CM000678.2:g.2090020_2090047del	GRCh38
NC_000016.9:g.2140021_2140048del , CM000678.1:g.2140021_2140048del	GRCh37
NC_000016.8:g.2080022_2080049del	NCBI36
NG_005895.1:g.45715_45742del , LRG_487:g.45715_45742del
NG_008617.1:g.53174_53201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12592_12619del MANE Select	ENSP00000262304.4:p.Ser4198GlyfsTer?
ENST00000262304.8:c.12592_12619del	ENSP00000262304.4:p.Ser4198GlyfsTer?
ENST00000423118.5:c.12589_12616del	ENSP00000399501.1:p.Ser4197GlyfsTer?
ENST00000472577.1:n.620_647del
NM_000296.3:c.12589_12616del	NP_000287.3:p.Ser4197GlyfsTer?
NM_001009944.2:c.12592_12619del	NP_001009944.2:p.Ser4198GlyfsTer?
XM_005255370.2:c.9547_9574del	XP_005255427.1:p.Ser3183GlyfsTer?
XM_011522525.1:c.12670_12697del	XP_011520827.1:p.Ser4224GlyfsTer?
XM_011522526.1:c.12667_12694del	XP_011520828.1:p.Ser4223GlyfsTer?
XM_011522527.1:c.12652_12679del	XP_011520829.1:p.Ser4218GlyfsTer?
XM_011522528.1:c.12646_12673del	XP_011520830.1:p.Ser4216GlyfsTer?
XM_011522529.1:c.12643_12670del	XP_011520831.1:p.Ser4215GlyfsTer?
XM_011522530.1:c.12616_12643del	XP_011520832.1:p.Ser4206GlyfsTer?
XM_011522531.1:c.12598_12625del	XP_011520833.1:p.Ser4200GlyfsTer?
XM_011522532.1:c.12544_12571del	XP_011520834.1:p.Ser4182GlyfsTer?
XM_011522533.1:c.12463_12490del	XP_011520835.1:p.Ser4155GlyfsTer?
XM_011522534.1:c.12406_12433del	XP_011520836.1:p.Ser4136GlyfsTer?
XM_011522535.1:c.10492_10519del	XP_011520837.1:p.Ser3498GlyfsTer?
XM_011522537.1:c.9670_9697del	XP_011520839.1:p.Ser3224GlyfsTer?
XR_932867.1:n.12510_12537del
XM_005255370.3:c.9547_9574del	XP_005255427.1:p.Ser3183GlyfsTer?
XM_011522528.3:c.12646_12673del	XP_011520830.1:p.Ser4216GlyfsTer?
XM_011522529.2:c.12643_12670del	XP_011520831.1:p.Ser4215GlyfsTer?
XM_011522537.2:c.9670_9697del	XP_011520839.1:p.Ser3224GlyfsTer?
XM_024450298.1:c.12712_12739del	XP_024306066.1:p.Ser4238GlyfsTer?
XM_024450299.1:c.12640_12667del	XP_024306067.1:p.Ser4214GlyfsTer?
XM_024450300.1:c.12502_12529del	XP_024306068.1:p.Ser4168GlyfsTer?
XM_024450301.1:c.10588_10615del	XP_024306069.1:p.Ser3530GlyfsTer?
NM_000296.4:c.12589_12616del	NP_000287.4:p.Ser4197GlyfsTer?
NM_001009944.3:c.12592_12619del MANE Select	NP_001009944.3:p.Ser4198GlyfsTer?