Canonical Allele Identifier: CA2671366534

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046936-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046940_88046942del , CM000666.2:g.88046940_88046942del	GRCh38
NC_000004.11:g.88968092_88968094del , CM000666.1:g.88968092_88968094del	GRCh37
NC_000004.10:g.89187116_89187118del	NCBI36
NG_008604.1:g.44273_44275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+70_1548+72del MANE Select	ENSP00000237596.2:n.1548+70_1548+72del
ENST00000237596.6:c.1548+70_1548+72del	ENSP00000237596.2:n.1548+70_1548+72del
ENST00000508588.5:c.-199+3483_-199+3485del	ENSP00000427131.1:n.-199+3483_-199+3485del
NM_000297.3:c.1548+70_1548+72del	NP_000288.1:n.1548+70_1548+72del
XM_011532028.1:c.1323+70_1323+72del	XP_011530330.1:n.1323+70_1323+72del
XM_011532029.1:c.828+70_828+72del	XP_011530331.1:n.828+70_828+72del
XM_011532030.1:c.708+70_708+72del	XP_011530332.1:n.708+70_708+72del
XR_244632.2:n.1643+70_1643+72del
NR_156488.1:n.1635+70_1635+72del
XM_011532028.2:c.1323+70_1323+72del	XP_011530330.1:n.1323+70_1323+72del
XM_011532030.2:c.708+70_708+72del	XP_011530332.1:n.708+70_708+72del
NM_000297.4:c.1548+70_1548+72del MANE Select	NP_000288.1:n.1548+70_1548+72del
NR_156488.2:n.1647+70_1647+72del