Canonical Allele Identifier: CA896166534

Gene: VHL

Linked Data

• dbSNP Id: rs1210753655
• gnomAD v3: 3-10150339-T-TA
• gnomAD v4: 3-10150339-T-TA
• MyVariant Identifiers: chr3:g.10192023_10192024insA (hg19) ; chr3:g.10150339_10150340insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150340dup , CM000665.2:g.10150340dup	GRCh38
NC_000003.11:g.10192024dup , CM000665.1:g.10192024dup	GRCh37
NC_000003.10:g.10167024dup	NCBI36
NG_008212.3:g.13706dup , LRG_322:g.13706dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*694dup	ENSP00000512434.1:n.*694dup
ENST00000696143.1:c.1153dup	ENSP00000512435.1:n.1153dup
ENST00000696153.1:c.*375dup	ENSP00000512444.1:n.*375dup
ENST00000256474.3:c.*375dup MANE Select	ENSP00000256474.3:n.*375dup
ENST00000256474.2:c.*375dup	ENSP00000256474.2:n.*375dup
ENST00000345392.2:c.*375dup	ENSP00000344757.2:n.*375dup
NM_000551.3:c.*375dup , LRG_322t1:c.*375dup	NP_000542.1:n.*375dup
NM_198156.2:c.*375dup	NP_937799.1:n.*375dup
NM_001354723.1:c.*571dup	NP_001341652.1:n.*571dup
NM_000551.4:c.*375dup MANE Select	NP_000542.1:n.*375dup
NM_001354723.2:c.*571dup	NP_001341652.1:n.*571dup
NM_198156.3:c.*375dup	NP_937799.1:n.*375dup