Canonical Allele Identifier: CA2739290728

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111562del , CM000678.2:g.2111562del	GRCh38
NC_000016.9:g.2161563del , CM000678.1:g.2161563del	GRCh37
NC_000016.8:g.2101564del	NCBI36
NG_008617.1:g.29339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3607del MANE Select	ENSP00000262304.4:p.Gln1203ArgfsTer17
ENST00000262304.8:c.3607del	ENSP00000262304.4:p.Gln1203ArgfsTer17
ENST00000415938.7:n.310+780del
ENST00000423118.5:c.3607del	ENSP00000399501.1:p.Gln1203ArgfsTer17
ENST00000468674.5:n.430+780del
ENST00000469241.2:n.557del
ENST00000483024.1:c.233+256del
ENST00000483731.5:n.790+780del
ENST00000488185.2:c.473-3202del
ENST00000565639.6:n.773+780del
ENST00000568591.5:c.2226+780del	ENSP00000457162.1:n.2226+780del
ENST00000569983.5:n.421+780del
NM_000296.3:c.3607del	NP_000287.3:p.Gln1203ArgfsTer17
NM_001009944.2:c.3607del	NP_001009944.2:p.Gln1203ArgfsTer17
XM_005255370.2:c.562del	XP_005255427.1:p.Gln188ArgfsTer17
XM_011522525.1:c.3685del	XP_011520827.1:p.Gln1229ArgfsTer17
XM_011522526.1:c.3685del	XP_011520828.1:p.Gln1229ArgfsTer17
XM_011522527.1:c.3685del	XP_011520829.1:p.Gln1229ArgfsTer17
XM_011522528.1:c.3661del	XP_011520830.1:p.Gln1221ArgfsTer17
XM_011522529.1:c.3661del	XP_011520831.1:p.Gln1221ArgfsTer17
XM_011522530.1:c.3631del	XP_011520832.1:p.Gln1211ArgfsTer17
XM_011522531.1:c.3613del	XP_011520833.1:p.Gln1205ArgfsTer17
XM_011522532.1:c.3559del	XP_011520834.1:p.Gln1187ArgfsTer17
XM_011522533.1:c.3478del	XP_011520835.1:p.Gln1160ArgfsTer17
XM_011522534.1:c.3421del	XP_011520836.1:p.Gln1141ArgfsTer17
XM_011522535.1:c.1507del	XP_011520837.1:p.Gln503ArgfsTer17
XM_011522536.1:c.3685del	XP_011520838.1:p.Gln1229ArgfsTer17
XM_011522537.1:c.685del	XP_011520839.1:p.Gln229ArgfsTer17
XR_932867.1:n.3700del
XR_932868.1:n.3700del
XR_932869.1:n.3700del
XR_932870.1:n.3700del
XM_005255370.3:c.562del	XP_005255427.1:p.Gln188ArgfsTer17
XM_011522528.3:c.3661del	XP_011520830.1:p.Gln1221ArgfsTer17
XM_011522529.2:c.3661del	XP_011520831.1:p.Gln1221ArgfsTer17
XM_011522537.2:c.685del	XP_011520839.1:p.Gln229ArgfsTer17
XM_024450298.1:c.3727del	XP_024306066.1:p.Gln1243ArgfsTer17
XM_024450299.1:c.3655del	XP_024306067.1:p.Gln1219ArgfsTer17
XM_024450300.1:c.3517del	XP_024306068.1:p.Gln1173ArgfsTer17
XM_024450301.1:c.1603del	XP_024306069.1:p.Gln535ArgfsTer17
NM_000296.4:c.3607del	NP_000287.4:p.Gln1203ArgfsTer17
NM_001009944.3:c.3607del MANE Select	NP_001009944.3:p.Gln1203ArgfsTer17