Canonical Allele Identifier: CA2671366512

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046881-GAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046886_88046888del , CM000666.2:g.88046886_88046888del	GRCh38
NC_000004.11:g.88968038_88968040del , CM000666.1:g.88968038_88968040del	GRCh37
NC_000004.10:g.89187062_89187064del	NCBI36
NG_008604.1:g.44219_44221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+16_1548+18del MANE Select	ENSP00000237596.2:n.1548+16_1548+18del
ENST00000237596.6:c.1548+16_1548+18del	ENSP00000237596.2:n.1548+16_1548+18del
ENST00000508588.5:c.-199+3429_-199+3431del	ENSP00000427131.1:n.-199+3429_-199+3431del
NM_000297.3:c.1548+16_1548+18del	NP_000288.1:n.1548+16_1548+18del
XM_011532028.1:c.1323+16_1323+18del	XP_011530330.1:n.1323+16_1323+18del
XM_011532029.1:c.828+16_828+18del	XP_011530331.1:n.828+16_828+18del
XM_011532030.1:c.708+16_708+18del	XP_011530332.1:n.708+16_708+18del
XR_244632.2:n.1643+16_1643+18del
NR_156488.1:n.1635+16_1635+18del
XM_011532028.2:c.1323+16_1323+18del	XP_011530330.1:n.1323+16_1323+18del
XM_011532030.2:c.708+16_708+18del	XP_011530332.1:n.708+16_708+18del
NM_000297.4:c.1548+16_1548+18del MANE Select	NP_000288.1:n.1548+16_1548+18del
NR_156488.2:n.1647+16_1647+18del