Canonical Allele Identifier: CA1345063400

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150228_10150232delinsAAGTC , CM000665.2:g.10150228_10150232delinsAAGTC	GRCh38
NC_000003.11:g.10191912_10191916delinsAAGTC , CM000665.1:g.10191912_10191916delinsAAGTC	GRCh37
NC_000003.10:g.10166912_10166916delinsAAGTC	NCBI36
NG_008212.3:g.13594_13598delinsAAGTC , LRG_322:g.13594_13598delinsAAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*582_*586delinsAAGTC	ENSP00000512434.1:n.*582_*586delinsAAGTC
ENST00000696143.1:c.1041_1045delinsAAGTC	ENSP00000512435.1:n.1041_1045delinsAAGTC
ENST00000696153.1:c.*263_*267delinsAAGTC	ENSP00000512444.1:n.*263_*267delinsAAGTC
ENST00000256474.3:c.*263_*267delinsAAGTC MANE Select	ENSP00000256474.3:n.*263_*267delinsAAGTC
ENST00000256474.2:c.*263_*267delinsAAGTC	ENSP00000256474.2:n.*263_*267delinsAAGTC
ENST00000345392.2:c.*263_*267delinsAAGTC	ENSP00000344757.2:n.*263_*267delinsAAGTC
NM_000551.3:c.*263_*267delinsAAGTC , LRG_322t1:c.*263_*267delinsAAGTC	NP_000542.1:n.*263_*267delinsAAGTC
NM_198156.2:c.*263_*267delinsAAGTC	NP_937799.1:n.*263_*267delinsAAGTC
NM_001354723.1:c.*459_*463delinsAAGTC	NP_001341652.1:n.*459_*463delinsAAGTC
NM_000551.4:c.*263_*267delinsAAGTC MANE Select	NP_000542.1:n.*263_*267delinsAAGTC
NM_001354723.2:c.*459_*463delinsAAGTC	NP_001341652.1:n.*459_*463delinsAAGTC
NM_198156.3:c.*263_*267delinsAAGTC	NP_937799.1:n.*263_*267delinsAAGTC