Canonical Allele Identifier: CA896162600

Gene: VHL

Linked Data

• dbSNP Id: rs1277544350
• MyVariant Identifiers: chr3:g.10187908_10187922del (hg19) ; chr3:g.10146224_10146238del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146224_10146238del , CM000665.2:g.10146224_10146238del	GRCh38
NC_000003.11:g.10187908_10187922del , CM000665.1:g.10187908_10187922del	GRCh37
NC_000003.10:g.10162908_10162922del	NCBI36
NG_008212.3:g.9590_9604del , LRG_322:g.9590_9604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-290_*18-276del	ENSP00000512434.1:n.*18-290_*18-276del
ENST00000696143.1:c.599+3203_599+3217del	ENSP00000512435.1:n.599+3203_599+3217del
ENST00000696153.1:c.341-290_341-276del	ENSP00000512444.1:n.341-290_341-276del
ENST00000256474.3:c.341-290_341-276del MANE Select	ENSP00000256474.3:n.341-290_341-276del
ENST00000256474.2:c.341-290_341-276del	ENSP00000256474.2:n.341-290_341-276del
ENST00000345392.2:c.341-3563_341-3549del	ENSP00000344757.2:n.341-3563_341-3549del
ENST00000477538.1:n.477-290_477-276del
NM_000551.3:c.341-290_341-276del , LRG_322t1:c.341-290_341-276del	NP_000542.1:n.341-290_341-276del
NM_198156.2:c.341-3563_341-3549del	NP_937799.1:n.341-3563_341-3549del
XM_011534078.1:c.*18-290_*18-276del	XP_011532380.1:n.*18-290_*18-276del
NM_001354723.1:c.*17+3203_*17+3217del	NP_001341652.1:n.*17+3203_*17+3217del
NM_000551.4:c.341-290_341-276del MANE Select	NP_000542.1:n.341-290_341-276del
NM_001354723.2:c.*17+3203_*17+3217del	NP_001341652.1:n.*17+3203_*17+3217del
NM_198156.3:c.341-3563_341-3549del	NP_937799.1:n.341-3563_341-3549del