Canonical Allele Identifier: CA2695221501

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090339del , CM000678.2:g.2090339del	GRCh38
NC_000016.9:g.2140340del , CM000678.1:g.2140340del	GRCh37
NC_000016.8:g.2080341del	NCBI36
NG_005895.1:g.46034del , LRG_487:g.46034del
NG_008617.1:g.52883del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.12391del MANE Select	ENSP00000262304.4:p.Glu4131SerfsTer?
ENST00000262304.8:c.12391del	ENSP00000262304.4:p.Glu4131SerfsTer?
ENST00000423118.5:c.12388del	ENSP00000399501.1:p.Glu4130SerfsTer?
ENST00000472577.1:n.419del
NM_000296.3:c.12388del	NP_000287.3:p.Glu4130SerfsTer?
NM_001009944.2:c.12391del	NP_001009944.2:p.Glu4131SerfsTer?
XM_005255370.2:c.9346del	XP_005255427.1:p.Glu3116SerfsTer?
XM_011522525.1:c.12469del	XP_011520827.1:p.Glu4157SerfsTer?
XM_011522526.1:c.12466del	XP_011520828.1:p.Glu4156SerfsTer?
XM_011522527.1:c.12451del	XP_011520829.1:p.Glu4151SerfsTer?
XM_011522528.1:c.12445del	XP_011520830.1:p.Glu4149SerfsTer?
XM_011522529.1:c.12442del	XP_011520831.1:p.Glu4148SerfsTer?
XM_011522530.1:c.12415del	XP_011520832.1:p.Glu4139SerfsTer?
XM_011522531.1:c.12397del	XP_011520833.1:p.Glu4133SerfsTer?
XM_011522532.1:c.12343del	XP_011520834.1:p.Glu4115SerfsTer?
XM_011522533.1:c.12262del	XP_011520835.1:p.Glu4088SerfsTer?
XM_011522534.1:c.12205del	XP_011520836.1:p.Glu4069SerfsTer?
XM_011522535.1:c.10291del	XP_011520837.1:p.Glu3431SerfsTer?
XM_011522537.1:c.9469del	XP_011520839.1:p.Glu3157SerfsTer?
XR_932867.1:n.12309del
XM_005255370.3:c.9346del	XP_005255427.1:p.Glu3116SerfsTer?
XM_011522528.3:c.12445del	XP_011520830.1:p.Glu4149SerfsTer?
XM_011522529.2:c.12442del	XP_011520831.1:p.Glu4148SerfsTer?
XM_011522537.2:c.9469del	XP_011520839.1:p.Glu3157SerfsTer?
XM_024450298.1:c.12511del	XP_024306066.1:p.Glu4171SerfsTer?
XM_024450299.1:c.12439del	XP_024306067.1:p.Glu4147SerfsTer?
XM_024450300.1:c.12301del	XP_024306068.1:p.Glu4101SerfsTer?
XM_024450301.1:c.10387del	XP_024306069.1:p.Glu3463SerfsTer?
NM_000296.4:c.12388del	NP_000287.4:p.Glu4130SerfsTer?
NM_001009944.3:c.12391del MANE Select	NP_001009944.3:p.Glu4131SerfsTer?