Canonical Allele Identifier: CA2202041616

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090392_2090393delinsAG , CM000678.2:g.2090392_2090393delinsAG	GRCh38
NC_000016.9:g.2140393_2140394delinsAG , CM000678.1:g.2140393_2140394delinsAG	GRCh37
NC_000016.8:g.2080394_2080395delinsAG	NCBI36
NG_005895.1:g.46087_46088delinsAG , LRG_487:g.46087_46088delinsAG
NG_008617.1:g.52828_52829delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12336_12337delinsCT MANE Select	ENSP00000262304.4:p.Ala4112=
ENST00000262304.8:c.12336_12337delinsCT	ENSP00000262304.4:p.Ala4112=
ENST00000423118.5:c.12333_12334delinsCT	ENSP00000399501.1:p.Ala4111=
ENST00000472577.1:n.364_365delinsCT
NM_000296.3:c.12333_12334delinsCT	NP_000287.3:p.Ala4111=
NM_001009944.2:c.12336_12337delinsCT	NP_001009944.2:p.Ala4112=
XM_005255370.2:c.9291_9292delinsCT	XP_005255427.1:p.Ala3097=
XM_011522525.1:c.12414_12415delinsCT	XP_011520827.1:p.Ala4138=
XM_011522526.1:c.12411_12412delinsCT	XP_011520828.1:p.Ala4137=
XM_011522527.1:c.12396_12397delinsCT	XP_011520829.1:p.Ala4132=
XM_011522528.1:c.12390_12391delinsCT	XP_011520830.1:p.Ala4130=
XM_011522529.1:c.12387_12388delinsCT	XP_011520831.1:p.Ala4129=
XM_011522530.1:c.12360_12361delinsCT	XP_011520832.1:p.Ala4120=
XM_011522531.1:c.12342_12343delinsCT	XP_011520833.1:p.Ala4114=
XM_011522532.1:c.12288_12289delinsCT	XP_011520834.1:p.Ala4096=
XM_011522533.1:c.12207_12208delinsCT	XP_011520835.1:p.Ala4069=
XM_011522534.1:c.12150_12151delinsCT	XP_011520836.1:p.Ala4050=
XM_011522535.1:c.10236_10237delinsCT	XP_011520837.1:p.Ala3412=
XM_011522537.1:c.9414_9415delinsCT	XP_011520839.1:p.Ala3138=
XR_932867.1:n.12254_12255delinsCT
XM_005255370.3:c.9291_9292delinsCT	XP_005255427.1:p.Ala3097=
XM_011522528.3:c.12390_12391delinsCT	XP_011520830.1:p.Ala4130=
XM_011522529.2:c.12387_12388delinsCT	XP_011520831.1:p.Ala4129=
XM_011522537.2:c.9414_9415delinsCT	XP_011520839.1:p.Ala3138=
XM_024450298.1:c.12456_12457delinsCT	XP_024306066.1:p.Ala4152=
XM_024450299.1:c.12384_12385delinsCT	XP_024306067.1:p.Ala4128=
XM_024450300.1:c.12246_12247delinsCT	XP_024306068.1:p.Ala4082=
XM_024450301.1:c.10332_10333delinsCT	XP_024306069.1:p.Ala3444=
NM_000296.4:c.12333_12334delinsCT	NP_000287.4:p.Ala4111=
NM_001009944.3:c.12336_12337delinsCT MANE Select	NP_001009944.3:p.Ala4112=