Canonical Allele Identifier: CA915941835

Gene: VHL

Linked Data

• ClinVar Variation Id: 821976
• ClinVar RCV Id: RCV001016937
• dbSNP Id: rs1575922271

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142138_10142143del , CM000665.2:g.10142138_10142143del	GRCh38
NC_000003.11:g.10183822_10183827del , CM000665.1:g.10183822_10183827del	GRCh37
NC_000003.10:g.10158822_10158827del	NCBI36
NG_008212.3:g.5504_5509del , LRG_322:g.5504_5509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.291_296del	ENSP00000512434.1:p.Tyr98_Pro99del
ENST00000696143.1:c.291_296del	ENSP00000512435.1:p.Tyr98_Pro99del
ENST00000696153.1:c.291_296del	ENSP00000512444.1:p.Tyr98_Pro99del
ENST00000256474.3:c.291_296del MANE Select	ENSP00000256474.3:p.Tyr98_Pro99del
ENST00000256474.2:c.291_296del	ENSP00000256474.2:p.Tyr98_Pro99del
ENST00000345392.2:c.291_296del	ENSP00000344757.2:p.Tyr98_Pro99del
NM_000551.3:c.291_296del , LRG_322t1:c.291_296del	NP_000542.1:p.Tyr98_Pro99del
NM_198156.2:c.291_296del	NP_937799.1:p.Tyr98_Pro99del
XM_011534078.1:c.291_296del	XP_011532380.1:p.Tyr98_Pro99del
NM_001354723.1:c.291_296del	NP_001341652.1:p.Tyr98_Pro99del
NM_000551.4:c.291_296del MANE Select	NP_000542.1:p.Tyr98_Pro99del
NM_001354723.2:c.291_296del	NP_001341652.1:p.Tyr98_Pro99del
NM_198156.3:c.291_296del	NP_937799.1:p.Tyr98_Pro99del