Canonical Allele Identifier: CA2695221515

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090384_2090385del , CM000678.2:g.2090384_2090385del	GRCh38
NC_000016.9:g.2140385_2140386del , CM000678.1:g.2140385_2140386del	GRCh37
NC_000016.8:g.2080386_2080387del	NCBI36
NG_005895.1:g.46079_46080del , LRG_487:g.46079_46080del
NG_008617.1:g.52839_52840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12347_12348del MANE Select	ENSP00000262304.4:p.Glu4116AlafsTer?
ENST00000262304.8:c.12347_12348del	ENSP00000262304.4:p.Glu4116AlafsTer?
ENST00000423118.5:c.12344_12345del	ENSP00000399501.1:p.Glu4115AlafsTer?
ENST00000472577.1:n.375_376del
NM_000296.3:c.12344_12345del	NP_000287.3:p.Glu4115AlafsTer?
NM_001009944.2:c.12347_12348del	NP_001009944.2:p.Glu4116AlafsTer?
XM_005255370.2:c.9302_9303del	XP_005255427.1:p.Glu3101AlafsTer?
XM_011522525.1:c.12425_12426del	XP_011520827.1:p.Glu4142AlafsTer?
XM_011522526.1:c.12422_12423del	XP_011520828.1:p.Glu4141AlafsTer?
XM_011522527.1:c.12407_12408del	XP_011520829.1:p.Glu4136AlafsTer?
XM_011522528.1:c.12401_12402del	XP_011520830.1:p.Glu4134AlafsTer?
XM_011522529.1:c.12398_12399del	XP_011520831.1:p.Glu4133AlafsTer?
XM_011522530.1:c.12371_12372del	XP_011520832.1:p.Glu4124AlafsTer?
XM_011522531.1:c.12353_12354del	XP_011520833.1:p.Glu4118AlafsTer?
XM_011522532.1:c.12299_12300del	XP_011520834.1:p.Glu4100AlafsTer?
XM_011522533.1:c.12218_12219del	XP_011520835.1:p.Glu4073AlafsTer?
XM_011522534.1:c.12161_12162del	XP_011520836.1:p.Glu4054AlafsTer?
XM_011522535.1:c.10247_10248del	XP_011520837.1:p.Glu3416AlafsTer?
XM_011522537.1:c.9425_9426del	XP_011520839.1:p.Glu3142AlafsTer?
XR_932867.1:n.12265_12266del
XM_005255370.3:c.9302_9303del	XP_005255427.1:p.Glu3101AlafsTer?
XM_011522528.3:c.12401_12402del	XP_011520830.1:p.Glu4134AlafsTer?
XM_011522529.2:c.12398_12399del	XP_011520831.1:p.Glu4133AlafsTer?
XM_011522537.2:c.9425_9426del	XP_011520839.1:p.Glu3142AlafsTer?
XM_024450298.1:c.12467_12468del	XP_024306066.1:p.Glu4156AlafsTer?
XM_024450299.1:c.12395_12396del	XP_024306067.1:p.Glu4132AlafsTer?
XM_024450300.1:c.12257_12258del	XP_024306068.1:p.Glu4086AlafsTer?
XM_024450301.1:c.10343_10344del	XP_024306069.1:p.Glu3448AlafsTer?
NM_000296.4:c.12344_12345del	NP_000287.4:p.Glu4115AlafsTer?
NM_001009944.3:c.12347_12348del MANE Select	NP_001009944.3:p.Glu4116AlafsTer?