Canonical Allele Identifier: CA553085854

Gene: PKD2

Linked Data

• gnomAD v2: 4-88929190-AGGT-A
• gnomAD v4: 4-88008038-AGGT-A
• MyVariant Identifiers: chr4:g.88929191_88929193del (hg19) ; chr4:g.88008039_88008041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008041_88008043del , CM000666.2:g.88008041_88008043del	GRCh38
NC_000004.11:g.88929193_88929195del , CM000666.1:g.88929193_88929195del	GRCh37
NC_000004.10:g.89148217_89148219del	NCBI36
NG_008604.1:g.5374_5376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.308_310del MANE Select	ENSP00000237596.2:p.Val103del
ENST00000237596.6:c.308_310del	ENSP00000237596.2:p.Val103del
NM_000297.3:c.308_310del	NP_000288.1:p.Val103del
XM_011532028.1:c.308_310del	XP_011530330.1:p.Val103del
XR_244632.2:n.403_405del
NR_156488.1:n.395_397del
XM_011532028.2:c.308_310del	XP_011530330.1:p.Val103del
NM_000297.4:c.308_310del MANE Select	NP_000288.1:p.Val103del
NR_156488.2:n.407_409del