Canonical Allele Identifier: CA915948976

Gene: PKD1

Linked Data

• ClinVar Variation Id: 817858
• ClinVar RCV Id: RCV001009082
• dbSNP Id: rs1596474136

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090564del , CM000678.2:g.2090564del	GRCh38
NC_000016.9:g.2140565del , CM000678.1:g.2140565del	GRCh37
NC_000016.8:g.2080566del	NCBI36
NG_005895.1:g.46259del , LRG_487:g.46259del
NG_008617.1:g.52657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12165del MANE Select	ENSP00000262304.4:p.Trp4056GlyfsTer?
ENST00000262304.8:c.12165del	ENSP00000262304.4:p.Trp4056GlyfsTer?
ENST00000423118.5:c.12162del	ENSP00000399501.1:p.Trp4055GlyfsTer?
ENST00000472577.1:n.193del
NM_000296.3:c.12162del	NP_000287.3:p.Trp4055GlyfsTer?
NM_001009944.2:c.12165del	NP_001009944.2:p.Trp4056GlyfsTer?
XM_005255370.2:c.9120del	XP_005255427.1:p.Trp3041GlyfsTer?
XM_011522525.1:c.12243del	XP_011520827.1:p.Trp4082GlyfsTer?
XM_011522526.1:c.12240del	XP_011520828.1:p.Trp4081GlyfsTer?
XM_011522527.1:c.12225del	XP_011520829.1:p.Trp4076GlyfsTer?
XM_011522528.1:c.12219del	XP_011520830.1:p.Trp4074GlyfsTer?
XM_011522529.1:c.12216del	XP_011520831.1:p.Trp4073GlyfsTer?
XM_011522530.1:c.12189del	XP_011520832.1:p.Trp4064GlyfsTer?
XM_011522531.1:c.12171del	XP_011520833.1:p.Trp4058GlyfsTer?
XM_011522532.1:c.12117del	XP_011520834.1:p.Trp4040GlyfsTer?
XM_011522533.1:c.12036del	XP_011520835.1:p.Trp4013GlyfsTer?
XM_011522534.1:c.11979del	XP_011520836.1:p.Trp3994GlyfsTer?
XM_011522535.1:c.10065del	XP_011520837.1:p.Trp3356GlyfsTer?
XM_011522537.1:c.9243del	XP_011520839.1:p.Trp3082GlyfsTer?
XR_932867.1:n.12083del
XM_005255370.3:c.9120del	XP_005255427.1:p.Trp3041GlyfsTer?
XM_011522528.3:c.12219del	XP_011520830.1:p.Trp4074GlyfsTer?
XM_011522529.2:c.12216del	XP_011520831.1:p.Trp4073GlyfsTer?
XM_011522537.2:c.9243del	XP_011520839.1:p.Trp3082GlyfsTer?
XM_024450298.1:c.12285del	XP_024306066.1:p.Trp4096GlyfsTer?
XM_024450299.1:c.12213del	XP_024306067.1:p.Trp4072GlyfsTer?
XM_024450300.1:c.12075del	XP_024306068.1:p.Trp4026GlyfsTer?
XM_024450301.1:c.10161del	XP_024306069.1:p.Trp3388GlyfsTer?
NM_000296.4:c.12162del	NP_000287.4:p.Trp4055GlyfsTer?
NM_001009944.3:c.12165del MANE Select	NP_001009944.3:p.Trp4056GlyfsTer?