Canonical Allele Identifier: CA2202046404

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109634_2109637delinsTGCC , CM000678.2:g.2109634_2109637delinsTGCC	GRCh38
NC_000016.9:g.2159635_2159638delinsTGCC , CM000678.1:g.2159635_2159638delinsTGCC	GRCh37
NC_000016.8:g.2099636_2099639delinsTGCC	NCBI36
NG_008617.1:g.31262_31265delinsGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5530_5533delinsGGCA MANE Select	ENSP00000262304.4:p.Gly1844=
ENST00000262304.8:c.5530_5533delinsGGCA	ENSP00000262304.4:p.Gly1844=
ENST00000415938.7:n.311-2689_311-2686delinsGGCA
ENST00000423118.5:c.5530_5533delinsGGCA	ENSP00000399501.1:p.Gly1844=
ENST00000468674.5:n.431-287_431-284delinsGGCA
ENST00000483024.1:c.233+2179_233+2182delinsGGCA
ENST00000483731.5:n.791-2689_791-2686delinsGGCA
ENST00000487932.5:c.217_220delinsGGCA	ENSP00000457132.1:p.Gly73=
ENST00000488185.2:c.473-1279_473-1276delinsGGCA
ENST00000565639.6:n.774-2689_774-2686delinsGGCA
ENST00000568591.5:c.2227-2689_2227-2686delinsGGCA	ENSP00000457162.1:n.2227-2689_2227-2686delinsGGCA
ENST00000569983.5:n.422-2689_422-2686delinsGGCA
NM_000296.3:c.5530_5533delinsGGCA	NP_000287.3:p.Gly1844=
NM_001009944.2:c.5530_5533delinsGGCA	NP_001009944.2:p.Gly1844=
XM_005255370.2:c.2485_2488delinsGGCA	XP_005255427.1:p.Gly829=
XM_011522525.1:c.5608_5611delinsGGCA	XP_011520827.1:p.Gly1870=
XM_011522526.1:c.5608_5611delinsGGCA	XP_011520828.1:p.Gly1870=
XM_011522527.1:c.5608_5611delinsGGCA	XP_011520829.1:p.Gly1870=
XM_011522528.1:c.5584_5587delinsGGCA	XP_011520830.1:p.Gly1862=
XM_011522529.1:c.5584_5587delinsGGCA	XP_011520831.1:p.Gly1862=
XM_011522530.1:c.5554_5557delinsGGCA	XP_011520832.1:p.Gly1852=
XM_011522531.1:c.5536_5539delinsGGCA	XP_011520833.1:p.Gly1846=
XM_011522532.1:c.5482_5485delinsGGCA	XP_011520834.1:p.Gly1828=
XM_011522533.1:c.5401_5404delinsGGCA	XP_011520835.1:p.Gly1801=
XM_011522534.1:c.5344_5347delinsGGCA	XP_011520836.1:p.Gly1782=
XM_011522535.1:c.3430_3433delinsGGCA	XP_011520837.1:p.Gly1144=
XM_011522536.1:c.5608_5611delinsGGCA	XP_011520838.1:p.Gly1870=
XM_011522537.1:c.2608_2611delinsGGCA	XP_011520839.1:p.Gly870=
XR_932867.1:n.5623_5626delinsGGCA
XR_932868.1:n.5623_5626delinsGGCA
XR_932869.1:n.5623_5626delinsGGCA
XR_932870.1:n.5623_5626delinsGGCA
XM_005255370.3:c.2485_2488delinsGGCA	XP_005255427.1:p.Gly829=
XM_011522528.3:c.5584_5587delinsGGCA	XP_011520830.1:p.Gly1862=
XM_011522529.2:c.5584_5587delinsGGCA	XP_011520831.1:p.Gly1862=
XM_011522537.2:c.2608_2611delinsGGCA	XP_011520839.1:p.Gly870=
XM_024450298.1:c.5650_5653delinsGGCA	XP_024306066.1:p.Gly1884=
XM_024450299.1:c.5578_5581delinsGGCA	XP_024306067.1:p.Gly1860=
XM_024450300.1:c.5440_5443delinsGGCA	XP_024306068.1:p.Gly1814=
XM_024450301.1:c.3526_3529delinsGGCA	XP_024306069.1:p.Gly1176=
NM_000296.4:c.5530_5533delinsGGCA	NP_000287.4:p.Gly1844=
NM_001009944.3:c.5530_5533delinsGGCA MANE Select	NP_001009944.3:p.Gly1844=