Canonical Allele Identifier: CA2695221543

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090466_2090467insT , CM000678.2:g.2090466_2090467insT	GRCh38
NC_000016.9:g.2140467_2140468insT , CM000678.1:g.2140467_2140468insT	GRCh37
NC_000016.8:g.2080468_2080469insT	NCBI36
NG_005895.1:g.46161_46162insT , LRG_487:g.46161_46162insT
NG_008617.1:g.52754_52755insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12262_12263insA MANE Select	ENSP00000262304.4:p.Val4088AspfsTer?
ENST00000262304.8:c.12262_12263insA	ENSP00000262304.4:p.Val4088AspfsTer?
ENST00000423118.5:c.12259_12260insA	ENSP00000399501.1:p.Val4087AspfsTer?
ENST00000472577.1:n.290_291insA
NM_000296.3:c.12259_12260insA	NP_000287.3:p.Val4087AspfsTer?
NM_001009944.2:c.12262_12263insA	NP_001009944.2:p.Val4088AspfsTer?
XM_005255370.2:c.9217_9218insA	XP_005255427.1:p.Val3073AspfsTer?
XM_011522525.1:c.12340_12341insA	XP_011520827.1:p.Val4114AspfsTer?
XM_011522526.1:c.12337_12338insA	XP_011520828.1:p.Val4113AspfsTer?
XM_011522527.1:c.12322_12323insA	XP_011520829.1:p.Val4108AspfsTer?
XM_011522528.1:c.12316_12317insA	XP_011520830.1:p.Val4106AspfsTer?
XM_011522529.1:c.12313_12314insA	XP_011520831.1:p.Val4105AspfsTer?
XM_011522530.1:c.12286_12287insA	XP_011520832.1:p.Val4096AspfsTer?
XM_011522531.1:c.12268_12269insA	XP_011520833.1:p.Val4090AspfsTer?
XM_011522532.1:c.12214_12215insA	XP_011520834.1:p.Val4072AspfsTer?
XM_011522533.1:c.12133_12134insA	XP_011520835.1:p.Val4045AspfsTer?
XM_011522534.1:c.12076_12077insA	XP_011520836.1:p.Val4026AspfsTer?
XM_011522535.1:c.10162_10163insA	XP_011520837.1:p.Val3388AspfsTer?
XM_011522537.1:c.9340_9341insA	XP_011520839.1:p.Val3114AspfsTer?
XR_932867.1:n.12180_12181insA
XM_005255370.3:c.9217_9218insA	XP_005255427.1:p.Val3073AspfsTer?
XM_011522528.3:c.12316_12317insA	XP_011520830.1:p.Val4106AspfsTer?
XM_011522529.2:c.12313_12314insA	XP_011520831.1:p.Val4105AspfsTer?
XM_011522537.2:c.9340_9341insA	XP_011520839.1:p.Val3114AspfsTer?
XM_024450298.1:c.12382_12383insA	XP_024306066.1:p.Val4128AspfsTer?
XM_024450299.1:c.12310_12311insA	XP_024306067.1:p.Val4104AspfsTer?
XM_024450300.1:c.12172_12173insA	XP_024306068.1:p.Val4058AspfsTer?
XM_024450301.1:c.10258_10259insA	XP_024306069.1:p.Val3420AspfsTer?
NM_000296.4:c.12259_12260insA	NP_000287.4:p.Val4087AspfsTer?
NM_001009944.3:c.12262_12263insA MANE Select	NP_001009944.3:p.Val4088AspfsTer?