Canonical Allele Identifier: CA2631132222

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092508-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092513del , CM000678.2:g.2092513del	GRCh38
NC_000016.9:g.2142514del , CM000678.1:g.2142514del	GRCh37
NC_000016.8:g.2082515del	NCBI36
NG_008617.1:g.50712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11240del (PKD1) MANE Select	ENSP00000262304.4:p.Pro3747HisfsTer?
ENST00000262304.8:c.11240del (PKD1)	ENSP00000262304.4:p.Pro3747HisfsTer?
ENST00000423118.5:c.11237del (PKD1)	ENSP00000399501.1:p.Pro3746HisfsTer?
ENST00000485120.1:n.89del (PKD1)
ENST00000487932.5:c.5802del (PKD1)	ENSP00000457132.1:n.5802del
ENST00000562425.1:c.353del (PKD1)
ENST00000567355.1:n.403del (PKD1)
NM_000296.3:c.11237del (PKD1)	NP_000287.3:p.Pro3746HisfsTer?
NM_001009944.2:c.11240del (PKD1)	NP_001009944.2:p.Pro3747HisfsTer?
XM_005255370.2:c.8195del (PKD1)	XP_005255427.1:p.Pro2732HisfsTer?
XM_011522525.1:c.11318del (PKD1)	XP_011520827.1:p.Pro3773HisfsTer?
XM_011522526.1:c.11315del (PKD1)	XP_011520828.1:p.Pro3772HisfsTer?
XM_011522527.1:c.11300del (PKD1)	XP_011520829.1:p.Pro3767HisfsTer?
XM_011522528.1:c.11294del (PKD1)	XP_011520830.1:p.Pro3765HisfsTer?
XM_011522529.1:c.11291del (PKD1)	XP_011520831.1:p.Pro3764HisfsTer?
XM_011522530.1:c.11264del (PKD1)	XP_011520832.1:p.Pro3755HisfsTer?
XM_011522531.1:c.11246del (PKD1)	XP_011520833.1:p.Pro3749HisfsTer?
XM_011522532.1:c.11192del (PKD1)	XP_011520834.1:p.Pro3731HisfsTer?
XM_011522533.1:c.11111del (PKD1)	XP_011520835.1:p.Pro3704HisfsTer?
XM_011522534.1:c.11054del (PKD1)	XP_011520836.1:p.Pro3685HisfsTer?
XM_011522535.1:c.9140del (PKD1)	XP_011520837.1:p.Pro3047HisfsTer?
XM_011522537.1:c.8318del (PKD1)	XP_011520839.1:p.Pro2773HisfsTer?
XR_932867.1:n.11333del (PKD1)
XR_932868.1:n.11110-321del (PKD1)
XR_932869.1:n.11110-321del (PKD1)
XR_932870.1:n.11193del (PKD1)
XR_933000.1:n.90-376del (PKD1-AS1)
XR_933001.1:n.180-376del (PKD1-AS1)
XR_933002.1:n.89-376del (PKD1-AS1)
XR_933003.1:n.89-376del (PKD1-AS1)
NR_135175.1:n.180-376del (PKD1-AS1)
XM_005255370.3:c.8195del (PKD1)	XP_005255427.1:p.Pro2732HisfsTer?
XM_011522528.3:c.11294del (PKD1)	XP_011520830.1:p.Pro3765HisfsTer?
XM_011522529.2:c.11291del (PKD1)	XP_011520831.1:p.Pro3764HisfsTer?
XM_011522537.2:c.8318del (PKD1)	XP_011520839.1:p.Pro2773HisfsTer?
XM_024450298.1:c.11360del (PKD1)	XP_024306066.1:p.Pro3787HisfsTer?
XM_024450299.1:c.11288del (PKD1)	XP_024306067.1:p.Pro3763HisfsTer?
XM_024450300.1:c.11150del (PKD1)	XP_024306068.1:p.Pro3717HisfsTer?
XM_024450301.1:c.9236del (PKD1)	XP_024306069.1:p.Pro3079HisfsTer?
NM_000296.4:c.11237del (PKD1)	NP_000287.4:p.Pro3746HisfsTer?
NM_001009944.3:c.11240del (PKD1) MANE Select	NP_001009944.3:p.Pro3747HisfsTer?