Canonical Allele Identifier: CA2631134397

Gene: PKD1

Linked Data

• gnomAD v4: 16-2116529-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2116530del , CM000678.2:g.2116530del	GRCh38
NC_000016.9:g.2166531del , CM000678.1:g.2166531del	GRCh37
NC_000016.8:g.2106532del	NCBI36
NG_008617.1:g.24369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.1721del MANE Select	ENSP00000262304.4:p.Glu574GlyfsTer10
ENST00000262304.8:c.1721del	ENSP00000262304.4:p.Glu574GlyfsTer10
ENST00000423118.5:c.1721del	ENSP00000399501.1:p.Glu574GlyfsTer10
ENST00000488185.2:c.472+959del
ENST00000568591.5:c.652del	ENSP00000457162.1:n.652del
NM_000296.3:c.1721del	NP_000287.3:p.Glu574GlyfsTer10
NM_001009944.2:c.1721del	NP_001009944.2:p.Glu574GlyfsTer10
XM_011522525.1:c.1775del	XP_011520827.1:p.Glu592GlyfsTer10
XM_011522526.1:c.1775del	XP_011520828.1:p.Glu592GlyfsTer10
XM_011522527.1:c.1775del	XP_011520829.1:p.Glu592GlyfsTer10
XM_011522528.1:c.1775del	XP_011520830.1:p.Glu592GlyfsTer10
XM_011522529.1:c.1775del	XP_011520831.1:p.Glu592GlyfsTer10
XM_011522530.1:c.1721del	XP_011520832.1:p.Glu574GlyfsTer10
XM_011522531.1:c.1703del	XP_011520833.1:p.Glu568GlyfsTer10
XM_011522532.1:c.1649del	XP_011520834.1:p.Glu550GlyfsTer10
XM_011522533.1:c.1568del	XP_011520835.1:p.Glu523GlyfsTer10
XM_011522534.1:c.1511del	XP_011520836.1:p.Glu504GlyfsTer10
XM_011522536.1:c.1775del	XP_011520838.1:p.Glu592GlyfsTer10
XR_932867.1:n.1790del
XR_932868.1:n.1790del
XR_932869.1:n.1790del
XR_932870.1:n.1790del
XM_011522528.3:c.1775del	XP_011520830.1:p.Glu592GlyfsTer10
XM_011522529.2:c.1775del	XP_011520831.1:p.Glu592GlyfsTer10
XM_024450298.1:c.1721del	XP_024306066.1:p.Glu574GlyfsTer10
XM_024450299.1:c.1649del	XP_024306067.1:p.Glu550GlyfsTer10
XM_024450300.1:c.1511del	XP_024306068.1:p.Glu504GlyfsTer10
NM_000296.4:c.1721del	NP_000287.4:p.Glu574GlyfsTer10
NM_001009944.3:c.1721del MANE Select	NP_001009944.3:p.Glu574GlyfsTer10