Canonical Allele Identifier: CA2671365798

Gene: PKD2

Linked Data

• gnomAD v4: 4-88038381-G-GAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038382_88038383insAAATA , CM000666.2:g.88038382_88038383insAAATA	GRCh38
NC_000004.11:g.88959534_88959535insAAATA , CM000666.1:g.88959534_88959535insAAATA	GRCh37
NC_000004.10:g.89178558_89178559insAAATA	NCBI36
NG_008604.1:g.35715_35716insAAATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.975_976insAAATA MANE Select	ENSP00000237596.2:p.Val326LysfsTer2
ENST00000237596.6:c.975_976insAAATA	ENSP00000237596.2:p.Val326LysfsTer2
ENST00000506367.1:n.422_423insAAATA
NM_000297.3:c.975_976insAAATA	NP_000288.1:p.Val326LysfsTer2
XM_011532028.1:c.975_976insAAATA	XP_011530330.1:p.Val326LysfsTer2
XM_011532029.1:c.255_256insAAATA	XP_011530331.1:p.Val86LysfsTer2
XM_011532030.1:c.135_136insAAATA	XP_011530332.1:p.Val46LysfsTer2
XR_244632.2:n.1070_1071insAAATA
NR_156488.1:n.1062_1063insAAATA
XM_011532028.2:c.975_976insAAATA	XP_011530330.1:p.Val326LysfsTer2
XM_011532030.2:c.135_136insAAATA	XP_011530332.1:p.Val46LysfsTer2
NM_000297.4:c.975_976insAAATA MANE Select	NP_000288.1:p.Val326LysfsTer2
NR_156488.2:n.1074_1075insAAATA