Canonical Allele Identifier: CA2586965635

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146558_10146559insAGA , CM000665.2:g.10146558_10146559insAGA	GRCh38
NC_000003.11:g.10188242_10188243insAGA , CM000665.1:g.10188242_10188243insAGA	GRCh37
NC_000003.10:g.10163242_10163243insAGA	NCBI36
NG_008212.3:g.9924_9925insAGA , LRG_322:g.9924_9925insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*62_*63insAGA	ENSP00000512434.1:n.*62_*63insAGA
ENST00000696143.1:c.600-3229_600-3228insAGA	ENSP00000512435.1:n.600-3229_600-3228insAGA
ENST00000696153.1:c.385_386insAGA	ENSP00000512444.1:p.Leu129delinsGlnMet
ENST00000256474.3:c.385_386insAGA MANE Select	ENSP00000256474.3:p.Leu129delinsGlnMet
ENST00000256474.2:c.385_386insAGA	ENSP00000256474.2:p.Leu129delinsGlnMet
ENST00000345392.2:c.341-3229_341-3228insAGA	ENSP00000344757.2:n.341-3229_341-3228insAGA
ENST00000477538.1:n.521_522insAGA
NM_000551.3:c.385_386insAGA , LRG_322t1:c.385_386insAGA	NP_000542.1:p.Leu129delinsGlnMet
NM_198156.2:c.341-3229_341-3228insAGA	NP_937799.1:n.341-3229_341-3228insAGA
XM_011534078.1:c.*62_*63insAGA	XP_011532380.1:n.*62_*63insAGA
NM_001354723.1:c.*18-3229_*18-3228insAGA	NP_001341652.1:n.*18-3229_*18-3228insAGA
NM_000551.4:c.385_386insAGA MANE Select	NP_000542.1:p.Leu129delinsGlnMet
NM_001354723.2:c.*18-3229_*18-3228insAGA	NP_001341652.1:n.*18-3229_*18-3228insAGA
NM_198156.3:c.341-3229_341-3228insAGA	NP_937799.1:n.341-3229_341-3228insAGA