Canonical Allele Identifier: CA2631131938

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111673-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111677del , CM000678.2:g.2111677del	GRCh38
NC_000016.9:g.2161678del , CM000678.1:g.2161678del	GRCh37
NC_000016.8:g.2101679del	NCBI36
NG_008617.1:g.29225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3493del MANE Select	ENSP00000262304.4:p.Asp1165ThrfsTer6
ENST00000262304.8:c.3493del	ENSP00000262304.4:p.Asp1165ThrfsTer6
ENST00000415938.7:n.310+666del
ENST00000423118.5:c.3493del	ENSP00000399501.1:p.Asp1165ThrfsTer6
ENST00000468674.5:n.430+666del
ENST00000469241.2:n.443del
ENST00000483024.1:c.233+142del
ENST00000483731.5:n.790+666del
ENST00000488185.2:c.473-3316del
ENST00000565639.6:n.773+666del
ENST00000568591.5:c.2226+666del	ENSP00000457162.1:n.2226+666del
ENST00000569983.5:n.421+666del
NM_000296.3:c.3493del	NP_000287.3:p.Asp1165ThrfsTer6
NM_001009944.2:c.3493del	NP_001009944.2:p.Asp1165ThrfsTer6
XM_005255370.2:c.448del	XP_005255427.1:p.Asp150ThrfsTer6
XM_011522525.1:c.3571del	XP_011520827.1:p.Asp1191ThrfsTer6
XM_011522526.1:c.3571del	XP_011520828.1:p.Asp1191ThrfsTer6
XM_011522527.1:c.3571del	XP_011520829.1:p.Asp1191ThrfsTer6
XM_011522528.1:c.3547del	XP_011520830.1:p.Asp1183ThrfsTer6
XM_011522529.1:c.3547del	XP_011520831.1:p.Asp1183ThrfsTer6
XM_011522530.1:c.3517del	XP_011520832.1:p.Asp1173ThrfsTer6
XM_011522531.1:c.3499del	XP_011520833.1:p.Asp1167ThrfsTer6
XM_011522532.1:c.3445del	XP_011520834.1:p.Asp1149ThrfsTer6
XM_011522533.1:c.3364del	XP_011520835.1:p.Asp1122ThrfsTer6
XM_011522534.1:c.3307del	XP_011520836.1:p.Asp1103ThrfsTer6
XM_011522535.1:c.1393del	XP_011520837.1:p.Asp465ThrfsTer6
XM_011522536.1:c.3571del	XP_011520838.1:p.Asp1191ThrfsTer6
XM_011522537.1:c.571del	XP_011520839.1:p.Asp191ThrfsTer6
XR_932867.1:n.3586del
XR_932868.1:n.3586del
XR_932869.1:n.3586del
XR_932870.1:n.3586del
XM_005255370.3:c.448del	XP_005255427.1:p.Asp150ThrfsTer6
XM_011522528.3:c.3547del	XP_011520830.1:p.Asp1183ThrfsTer6
XM_011522529.2:c.3547del	XP_011520831.1:p.Asp1183ThrfsTer6
XM_011522537.2:c.571del	XP_011520839.1:p.Asp191ThrfsTer6
XM_024450298.1:c.3613del	XP_024306066.1:p.Asp1205ThrfsTer6
XM_024450299.1:c.3541del	XP_024306067.1:p.Asp1181ThrfsTer6
XM_024450300.1:c.3403del	XP_024306068.1:p.Asp1135ThrfsTer6
XM_024450301.1:c.1489del	XP_024306069.1:p.Asp497ThrfsTer6
NM_000296.4:c.3493del	NP_000287.4:p.Asp1165ThrfsTer6
NM_001009944.3:c.3493del MANE Select	NP_001009944.3:p.Asp1165ThrfsTer6