Canonical Allele Identifier: CA2202041928

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090507_2090512delinsCAGGGT , CM000678.2:g.2090507_2090512delinsCAGGGT	GRCh38
NC_000016.9:g.2140508_2140513delinsCAGGGT , CM000678.1:g.2140508_2140513delinsCAGGGT	GRCh37
NC_000016.8:g.2080509_2080514delinsCAGGGT	NCBI36
NG_005895.1:g.46202_46207delinsCAGGGT , LRG_487:g.46202_46207delinsCAGGGT
NG_008617.1:g.52709_52714delinsACCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12217_12222delinsACCCTG MANE Select	ENSP00000262304.4:p.Thr4073=
ENST00000262304.8:c.12217_12222delinsACCCTG	ENSP00000262304.4:p.Thr4073=
ENST00000423118.5:c.12214_12219delinsACCCTG	ENSP00000399501.1:p.Thr4072=
ENST00000472577.1:n.245_250delinsACCCTG
NM_000296.3:c.12214_12219delinsACCCTG	NP_000287.3:p.Thr4072=
NM_001009944.2:c.12217_12222delinsACCCTG	NP_001009944.2:p.Thr4073=
XM_005255370.2:c.9172_9177delinsACCCTG	XP_005255427.1:p.Thr3058=
XM_011522525.1:c.12295_12300delinsACCCTG	XP_011520827.1:p.Thr4099=
XM_011522526.1:c.12292_12297delinsACCCTG	XP_011520828.1:p.Thr4098=
XM_011522527.1:c.12277_12282delinsACCCTG	XP_011520829.1:p.Thr4093=
XM_011522528.1:c.12271_12276delinsACCCTG	XP_011520830.1:p.Thr4091=
XM_011522529.1:c.12268_12273delinsACCCTG	XP_011520831.1:p.Thr4090=
XM_011522530.1:c.12241_12246delinsACCCTG	XP_011520832.1:p.Thr4081=
XM_011522531.1:c.12223_12228delinsACCCTG	XP_011520833.1:p.Thr4075=
XM_011522532.1:c.12169_12174delinsACCCTG	XP_011520834.1:p.Thr4057=
XM_011522533.1:c.12088_12093delinsACCCTG	XP_011520835.1:p.Thr4030=
XM_011522534.1:c.12031_12036delinsACCCTG	XP_011520836.1:p.Thr4011=
XM_011522535.1:c.10117_10122delinsACCCTG	XP_011520837.1:p.Thr3373=
XM_011522537.1:c.9295_9300delinsACCCTG	XP_011520839.1:p.Thr3099=
XR_932867.1:n.12135_12140delinsACCCTG
XM_005255370.3:c.9172_9177delinsACCCTG	XP_005255427.1:p.Thr3058=
XM_011522528.3:c.12271_12276delinsACCCTG	XP_011520830.1:p.Thr4091=
XM_011522529.2:c.12268_12273delinsACCCTG	XP_011520831.1:p.Thr4090=
XM_011522537.2:c.9295_9300delinsACCCTG	XP_011520839.1:p.Thr3099=
XM_024450298.1:c.12337_12342delinsACCCTG	XP_024306066.1:p.Thr4113=
XM_024450299.1:c.12265_12270delinsACCCTG	XP_024306067.1:p.Thr4089=
XM_024450300.1:c.12127_12132delinsACCCTG	XP_024306068.1:p.Thr4043=
XM_024450301.1:c.10213_10218delinsACCCTG	XP_024306069.1:p.Thr3405=
NM_000296.4:c.12214_12219delinsACCCTG	NP_000287.4:p.Thr4072=
NM_001009944.3:c.12217_12222delinsACCCTG MANE Select	NP_001009944.3:p.Thr4073=