Canonical Allele Identifier: CA658798514

Gene: PKD1

Linked Data

• dbSNP Id: rs1555454460
• gnomAD v4: 16-2108767-CGAA-C
• MyVariant Identifiers: chr16:g.2158769_2158771del (hg19) ; chr16:g.2108768_2108770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2108772_2108774del , CM000678.2:g.2108772_2108774del	GRCh38
NC_000016.9:g.2158773_2158775del , CM000678.1:g.2158773_2158775del	GRCh37
NC_000016.8:g.2098774_2098776del	NCBI36
NG_008617.1:g.32129_32131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.6397_6399del MANE Select	ENSP00000262304.4:p.Phe2133del
ENST00000262304.8:c.6397_6399del	ENSP00000262304.4:p.Phe2133del
ENST00000415938.7:n.311-1822_311-1820del
ENST00000423118.5:c.6397_6399del	ENSP00000399501.1:p.Phe2133del
ENST00000483024.1:c.234-1822_234-1820del
ENST00000483731.5:n.791-1822_791-1820del
ENST00000487932.5:c.1084_1086del	ENSP00000457132.1:p.Phe362del
ENST00000488185.2:c.473-412_473-410del
ENST00000565639.6:n.774-1822_774-1820del
ENST00000568591.5:c.2227-1822_2227-1820del	ENSP00000457162.1:n.2227-1822_2227-1820de...
ENST00000569983.5:n.422-1822_422-1820del
NM_000296.3:c.6397_6399del	NP_000287.3:p.Phe2133del
NM_001009944.2:c.6397_6399del	NP_001009944.2:p.Phe2133del
XM_005255370.2:c.3352_3354del	XP_005255427.1:p.Phe1118del
XM_011522525.1:c.6475_6477del	XP_011520827.1:p.Phe2159del
XM_011522526.1:c.6475_6477del	XP_011520828.1:p.Phe2159del
XM_011522527.1:c.6475_6477del	XP_011520829.1:p.Phe2159del
XM_011522528.1:c.6451_6453del	XP_011520830.1:p.Phe2151del
XM_011522529.1:c.6451_6453del	XP_011520831.1:p.Phe2151del
XM_011522530.1:c.6421_6423del	XP_011520832.1:p.Phe2141del
XM_011522531.1:c.6403_6405del	XP_011520833.1:p.Phe2135del
XM_011522532.1:c.6349_6351del	XP_011520834.1:p.Phe2117del
XM_011522533.1:c.6268_6270del	XP_011520835.1:p.Phe2090del
XM_011522534.1:c.6211_6213del	XP_011520836.1:p.Phe2071del
XM_011522535.1:c.4297_4299del	XP_011520837.1:p.Phe1433del
XM_011522536.1:c.6475_6477del	XP_011520838.1:p.Phe2159del
XM_011522537.1:c.3475_3477del	XP_011520839.1:p.Phe1159del
XR_932867.1:n.6490_6492del
XR_932868.1:n.6490_6492del
XR_932869.1:n.6490_6492del
XR_932870.1:n.6490_6492del
XM_005255370.3:c.3352_3354del	XP_005255427.1:p.Phe1118del
XM_011522528.3:c.6451_6453del	XP_011520830.1:p.Phe2151del
XM_011522529.2:c.6451_6453del	XP_011520831.1:p.Phe2151del
XM_011522537.2:c.3475_3477del	XP_011520839.1:p.Phe1159del
XM_024450298.1:c.6517_6519del	XP_024306066.1:p.Phe2173del
XM_024450299.1:c.6445_6447del	XP_024306067.1:p.Phe2149del
XM_024450300.1:c.6307_6309del	XP_024306068.1:p.Phe2103del
XM_024450301.1:c.4393_4395del	XP_024306069.1:p.Phe1465del
NM_000296.4:c.6397_6399del	NP_000287.4:p.Phe2133del
NM_001009944.3:c.6397_6399del MANE Select	NP_001009944.3:p.Phe2133del