Canonical Allele Identifier: CA2631142028

Gene: PKD1

Linked Data

• gnomAD v4: 16-2114812-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114814del , CM000678.2:g.2114814del	GRCh38
NC_000016.9:g.2164815del , CM000678.1:g.2164815del	GRCh37
NC_000016.8:g.2104816del	NCBI36
NG_008617.1:g.26086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2210del MANE Select	ENSP00000262304.4:p.Gly737ValfsTer?
ENST00000262304.8:c.2210del	ENSP00000262304.4:p.Gly737ValfsTer?
ENST00000423118.5:c.2210del	ENSP00000399501.1:p.Gly737ValfsTer?
ENST00000488185.2:c.472+2676del
ENST00000568591.5:c.1141del	ENSP00000457162.1:n.1141del
NM_000296.3:c.2210del	NP_000287.3:p.Gly737ValfsTer?
NM_001009944.2:c.2210del	NP_001009944.2:p.Gly737ValfsTer?
XM_011522525.1:c.2264del	XP_011520827.1:p.Gly755ValfsTer?
XM_011522526.1:c.2264del	XP_011520828.1:p.Gly755ValfsTer?
XM_011522527.1:c.2264del	XP_011520829.1:p.Gly755ValfsTer?
XM_011522528.1:c.2264del	XP_011520830.1:p.Gly755ValfsTer?
XM_011522529.1:c.2264del	XP_011520831.1:p.Gly755ValfsTer?
XM_011522530.1:c.2210del	XP_011520832.1:p.Gly737ValfsTer?
XM_011522531.1:c.2192del	XP_011520833.1:p.Gly731ValfsTer?
XM_011522532.1:c.2138del	XP_011520834.1:p.Gly713ValfsTer?
XM_011522533.1:c.2057del	XP_011520835.1:p.Gly686ValfsTer?
XM_011522534.1:c.2000del	XP_011520836.1:p.Gly667ValfsTer?
XM_011522535.1:c.86del	XP_011520837.1:p.Gly29ValfsTer?
XM_011522536.1:c.2264del	XP_011520838.1:p.Gly755ValfsTer?
XR_932867.1:n.2279del
XR_932868.1:n.2279del
XR_932869.1:n.2279del
XR_932870.1:n.2279del
XM_005255370.3:c.-840del	XP_005255427.1:n.-840del
XM_011522528.3:c.2264del	XP_011520830.1:p.Gly755ValfsTer?
XM_011522529.2:c.2264del	XP_011520831.1:p.Gly755ValfsTer?
XM_024450298.1:c.2210del	XP_024306066.1:p.Gly737ValfsTer?
XM_024450299.1:c.2138del	XP_024306067.1:p.Gly713ValfsTer?
XM_024450300.1:c.2000del	XP_024306068.1:p.Gly667ValfsTer?
XM_024450301.1:c.86del	XP_024306069.1:p.Gly29ValfsTer?
NM_000296.4:c.2210del	NP_000287.4:p.Gly737ValfsTer?
NM_001009944.3:c.2210del MANE Select	NP_001009944.3:p.Gly737ValfsTer?