Canonical Allele Identifier: CA2202035346

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106612_2106613delinsGC , CM000678.2:g.2106612_2106613delinsGC	GRCh38
NC_000016.9:g.2156613_2156614delinsGC , CM000678.1:g.2156613_2156614delinsGC	GRCh37
NC_000016.8:g.2096614_2096615delinsGC	NCBI36
NG_008617.1:g.34286_34287delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7274_7275delinsGC MANE Select	ENSP00000262304.4:p.Gly2425=
ENST00000262304.8:c.7274_7275delinsGC	ENSP00000262304.4:p.Gly2425=
ENST00000415938.7:n.519_520delinsGC
ENST00000423118.5:c.7274_7275delinsGC	ENSP00000399501.1:p.Gly2425=
ENST00000483024.1:c.442_443delinsGC
ENST00000483558.5:n.333_334delinsGC
ENST00000483731.5:n.999_1000delinsGC
ENST00000486339.6:n.1020_1021delinsGC
ENST00000487932.5:c.1961_1962delinsGC	ENSP00000457132.1:p.Gly654=
ENST00000496574.6:n.1277_1278delinsGC
ENST00000565639.6:n.982_983delinsGC
ENST00000568591.5:c.2435_2436delinsGC	ENSP00000457162.1:n.2435_2436delinsGC
ENST00000569983.5:n.630_631delinsGC
NM_000296.3:c.7274_7275delinsGC	NP_000287.3:p.Gly2425=
NM_001009944.2:c.7274_7275delinsGC	NP_001009944.2:p.Gly2425=
XM_005255370.2:c.4229_4230delinsGC	XP_005255427.1:p.Gly1410=
XM_011522525.1:c.7352_7353delinsGC	XP_011520827.1:p.Gly2451=
XM_011522526.1:c.7352_7353delinsGC	XP_011520828.1:p.Gly2451=
XM_011522527.1:c.7352_7353delinsGC	XP_011520829.1:p.Gly2451=
XM_011522528.1:c.7328_7329delinsGC	XP_011520830.1:p.Gly2443=
XM_011522529.1:c.7328_7329delinsGC	XP_011520831.1:p.Gly2443=
XM_011522530.1:c.7298_7299delinsGC	XP_011520832.1:p.Gly2433=
XM_011522531.1:c.7280_7281delinsGC	XP_011520833.1:p.Gly2427=
XM_011522532.1:c.7226_7227delinsGC	XP_011520834.1:p.Gly2409=
XM_011522533.1:c.7145_7146delinsGC	XP_011520835.1:p.Gly2382=
XM_011522534.1:c.7088_7089delinsGC	XP_011520836.1:p.Gly2363=
XM_011522535.1:c.5174_5175delinsGC	XP_011520837.1:p.Gly1725=
XM_011522536.1:c.7352_7353delinsGC	XP_011520838.1:p.Gly2451=
XM_011522537.1:c.4352_4353delinsGC	XP_011520839.1:p.Gly1451=
XR_932867.1:n.7367_7368delinsGC
XR_932868.1:n.7367_7368delinsGC
XR_932869.1:n.7367_7368delinsGC
XR_932870.1:n.7367_7368delinsGC
XM_005255370.3:c.4229_4230delinsGC	XP_005255427.1:p.Gly1410=
XM_011522528.3:c.7328_7329delinsGC	XP_011520830.1:p.Gly2443=
XM_011522529.2:c.7328_7329delinsGC	XP_011520831.1:p.Gly2443=
XM_011522537.2:c.4352_4353delinsGC	XP_011520839.1:p.Gly1451=
XM_024450298.1:c.7394_7395delinsGC	XP_024306066.1:p.Gly2465=
XM_024450299.1:c.7322_7323delinsGC	XP_024306067.1:p.Gly2441=
XM_024450300.1:c.7184_7185delinsGC	XP_024306068.1:p.Gly2395=
XM_024450301.1:c.5270_5271delinsGC	XP_024306069.1:p.Gly1757=
NM_000296.4:c.7274_7275delinsGC	NP_000287.4:p.Gly2425=
NM_001009944.3:c.7274_7275delinsGC MANE Select	NP_001009944.3:p.Gly2425=