Canonical Allele Identifier: CA1045001769

Gene: VHL

Linked Data

• gnomAD v3: 3-10153170-CGAGA-C
• gnomAD v4: 3-10153170-CGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153172_10153175del , CM000665.2:g.10153172_10153175del	GRCh38
NC_000003.11:g.10194856_10194859del , CM000665.1:g.10194856_10194859del	GRCh37
NC_000003.10:g.10169856_10169859del	NCBI36
NG_008212.3:g.16538_16541del , LRG_322:g.16538_16541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3207_*3210del	ENSP00000512444.1:n.*3207_*3210del
ENST00000256474.3:c.*3207_*3210del MANE Select	ENSP00000256474.3:n.*3207_*3210del
NM_000551.3:c.*3207_*3210del , LRG_322t1:c.*3207_*3210del	NP_000542.1:n.*3207_*3210del
NM_198156.2:c.*3207_*3210del	NP_937799.1:n.*3207_*3210del
NM_001354723.1:c.*3403_*3406del	NP_001341652.1:n.*3403_*3406del
NM_000551.4:c.*3207_*3210del MANE Select	NP_000542.1:n.*3207_*3210del
NM_001354723.2:c.*3403_*3406del	NP_001341652.1:n.*3403_*3406del
NM_198156.3:c.*3207_*3210del	NP_937799.1:n.*3207_*3210del