Canonical Allele Identifier: CA2575878510

Gene: PKD1 MIR6511B1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106677del , CM000678.2:g.2106677del	GRCh38
NC_000016.9:g.2156678del , CM000678.1:g.2156678del	GRCh37
NC_000016.8:g.2096679del	NCBI36
NG_008617.1:g.34222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7210del (PKD1) MANE Select	ENSP00000262304.4:p.Arg2404GlyfsTer?
ENST00000262304.8:c.7210del (PKD1)	ENSP00000262304.4:p.Arg2404GlyfsTer?
ENST00000415938.7:n.455del (PKD1)
ENST00000423118.5:c.7210del (PKD1)	ENSP00000399501.1:p.Arg2404GlyfsTer?
ENST00000483024.1:c.378del (PKD1)
ENST00000483558.5:n.269del (PKD1)
ENST00000483731.5:n.935del (PKD1)
ENST00000486339.6:n.956del (PKD1)
ENST00000487932.5:c.1897del (PKD1)	ENSP00000457132.1:p.Arg633GlyfsTer?
ENST00000496574.6:n.1213del (PKD1)
ENST00000565639.6:n.918del (PKD1)
ENST00000568591.5:c.2371del (PKD1)	ENSP00000457162.1:n.2371del
ENST00000569983.5:n.566del (PKD1)
NM_000296.3:c.7210del (PKD1)	NP_000287.3:p.Arg2404GlyfsTer?
NM_001009944.2:c.7210del (PKD1)	NP_001009944.2:p.Arg2404GlyfsTer?
NR_106775.1:n.77del (MIR6511B1)
XM_005255370.2:c.4165del (PKD1)	XP_005255427.1:p.Arg1389GlyfsTer?
XM_011522525.1:c.7288del (PKD1)	XP_011520827.1:p.Arg2430GlyfsTer?
XM_011522526.1:c.7288del (PKD1)	XP_011520828.1:p.Arg2430GlyfsTer?
XM_011522527.1:c.7288del (PKD1)	XP_011520829.1:p.Arg2430GlyfsTer?
XM_011522528.1:c.7264del (PKD1)	XP_011520830.1:p.Arg2422GlyfsTer?
XM_011522529.1:c.7264del (PKD1)	XP_011520831.1:p.Arg2422GlyfsTer?
XM_011522530.1:c.7234del (PKD1)	XP_011520832.1:p.Arg2412GlyfsTer?
XM_011522531.1:c.7216del (PKD1)	XP_011520833.1:p.Arg2406GlyfsTer?
XM_011522532.1:c.7162del (PKD1)	XP_011520834.1:p.Arg2388GlyfsTer?
XM_011522533.1:c.7081del (PKD1)	XP_011520835.1:p.Arg2361GlyfsTer?
XM_011522534.1:c.7024del (PKD1)	XP_011520836.1:p.Arg2342GlyfsTer?
XM_011522535.1:c.5110del (PKD1)	XP_011520837.1:p.Arg1704GlyfsTer?
XM_011522536.1:c.7288del (PKD1)	XP_011520838.1:p.Arg2430GlyfsTer?
XM_011522537.1:c.4288del (PKD1)	XP_011520839.1:p.Arg1430GlyfsTer?
XR_932867.1:n.7303del (PKD1)
XR_932868.1:n.7303del (PKD1)
XR_932869.1:n.7303del (PKD1)
XR_932870.1:n.7303del (PKD1)
XM_005255370.3:c.4165del (PKD1)	XP_005255427.1:p.Arg1389GlyfsTer?
XM_011522528.3:c.7264del (PKD1)	XP_011520830.1:p.Arg2422GlyfsTer?
XM_011522529.2:c.7264del (PKD1)	XP_011520831.1:p.Arg2422GlyfsTer?
XM_011522537.2:c.4288del (PKD1)	XP_011520839.1:p.Arg1430GlyfsTer?
XM_024450298.1:c.7330del (PKD1)	XP_024306066.1:p.Arg2444GlyfsTer?
XM_024450299.1:c.7258del (PKD1)	XP_024306067.1:p.Arg2420GlyfsTer?
XM_024450300.1:c.7120del (PKD1)	XP_024306068.1:p.Arg2374GlyfsTer?
XM_024450301.1:c.5206del (PKD1)	XP_024306069.1:p.Arg1736GlyfsTer?
NM_000296.4:c.7210del (PKD1)	NP_000287.4:p.Arg2404GlyfsTer?
NM_001009944.3:c.7210del (PKD1) MANE Select	NP_001009944.3:p.Arg2404GlyfsTer?