Canonical Allele Identifier: CA620705786

Gene: PKD1

Linked Data

• dbSNP Id: rs1172528403
• gnomAD v2: 16-2159628-T-TTGC
• gnomAD v3: 16-2109627-T-TTGC
• gnomAD v4: 16-2109627-T-TTGC
• MyVariant Identifiers: chr16:g.2159628_2159629insTGC (hg19) ; chr16:g.2109627_2109628insTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109634_2109636dup , CM000678.2:g.2109634_2109636dup	GRCh38
NC_000016.9:g.2159635_2159637dup , CM000678.1:g.2159635_2159637dup	GRCh37
NC_000016.8:g.2099636_2099638dup	NCBI36
NG_008617.1:g.31269_31271dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5537_5539dup MANE Select	ENSP00000262304.4:p.Ser1846_Lys1847insSer
ENST00000262304.8:c.5537_5539dup	ENSP00000262304.4:p.Ser1846_Lys1847insSer
ENST00000415938.7:n.311-2682_311-2680dup
ENST00000423118.5:c.5537_5539dup	ENSP00000399501.1:p.Ser1846_Lys1847insSer
ENST00000468674.5:n.431-280_431-278dup
ENST00000483024.1:c.233+2186_233+2188dup
ENST00000483731.5:n.791-2682_791-2680dup
ENST00000487932.5:c.224_226dup	ENSP00000457132.1:p.Ser75_Lys76insSer
ENST00000488185.2:c.473-1272_473-1270dup
ENST00000565639.6:n.774-2682_774-2680dup
ENST00000568591.5:c.2227-2682_2227-2680dup	ENSP00000457162.1:n.2227-2682_2227-2680dup
ENST00000569983.5:n.422-2682_422-2680dup
NM_000296.3:c.5537_5539dup	NP_000287.3:p.Ser1846_Lys1847insSer
NM_001009944.2:c.5537_5539dup	NP_001009944.2:p.Ser1846_Lys1847insSer
XM_005255370.2:c.2492_2494dup	XP_005255427.1:p.Ser831_Lys832insSer
XM_011522525.1:c.5615_5617dup	XP_011520827.1:p.Ser1872_Lys1873insSer
XM_011522526.1:c.5615_5617dup	XP_011520828.1:p.Ser1872_Lys1873insSer
XM_011522527.1:c.5615_5617dup	XP_011520829.1:p.Ser1872_Lys1873insSer
XM_011522528.1:c.5591_5593dup	XP_011520830.1:p.Ser1864_Lys1865insSer
XM_011522529.1:c.5591_5593dup	XP_011520831.1:p.Ser1864_Lys1865insSer
XM_011522530.1:c.5561_5563dup	XP_011520832.1:p.Ser1854_Lys1855insSer
XM_011522531.1:c.5543_5545dup	XP_011520833.1:p.Ser1848_Lys1849insSer
XM_011522532.1:c.5489_5491dup	XP_011520834.1:p.Ser1830_Lys1831insSer
XM_011522533.1:c.5408_5410dup	XP_011520835.1:p.Ser1803_Lys1804insSer
XM_011522534.1:c.5351_5353dup	XP_011520836.1:p.Ser1784_Lys1785insSer
XM_011522535.1:c.3437_3439dup	XP_011520837.1:p.Ser1146_Lys1147insSer
XM_011522536.1:c.5615_5617dup	XP_011520838.1:p.Ser1872_Lys1873insSer
XM_011522537.1:c.2615_2617dup	XP_011520839.1:p.Ser872_Lys873insSer
XR_932867.1:n.5630_5632dup
XR_932868.1:n.5630_5632dup
XR_932869.1:n.5630_5632dup
XR_932870.1:n.5630_5632dup
XM_005255370.3:c.2492_2494dup	XP_005255427.1:p.Ser831_Lys832insSer
XM_011522528.3:c.5591_5593dup	XP_011520830.1:p.Ser1864_Lys1865insSer
XM_011522529.2:c.5591_5593dup	XP_011520831.1:p.Ser1864_Lys1865insSer
XM_011522537.2:c.2615_2617dup	XP_011520839.1:p.Ser872_Lys873insSer
XM_024450298.1:c.5657_5659dup	XP_024306066.1:p.Ser1886_Lys1887insSer
XM_024450299.1:c.5585_5587dup	XP_024306067.1:p.Ser1862_Lys1863insSer
XM_024450300.1:c.5447_5449dup	XP_024306068.1:p.Ser1816_Lys1817insSer
XM_024450301.1:c.3533_3535dup	XP_024306069.1:p.Ser1178_Lys1179insSer
NM_000296.4:c.5537_5539dup	NP_000287.4:p.Ser1846_Lys1847insSer
NM_001009944.3:c.5537_5539dup MANE Select	NP_001009944.3:p.Ser1846_Lys1847insSer