Canonical Allele Identifier: CA896157844

Gene: VHL

Linked Data

• dbSNP Id: rs1368070956
• MyVariant Identifiers: chr3:g.10183530_10183531insAATGCCCCGGAGGGCGGAGAA (hg19) ; chr3:g.10141846_10141847insAATGCCCCGGAGGGCGGAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141847_10141867dup , CM000665.2:g.10141847_10141867dup	GRCh38
NC_000003.11:g.10183531_10183551dup , CM000665.1:g.10183531_10183551dup	GRCh37
NC_000003.10:g.10158531_10158551dup	NCBI36
NG_008212.3:g.5213_5233dup , LRG_322:g.5213_5233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-1_20dup	ENSP00000512434.1:p.Glu6_Asn7insLysMetProArgArgAlaGlu
ENST00000696153.1:c.-1_20dup	ENSP00000512444.1:p.Glu6_Asn7insLysMetProArgArgAlaGlu
ENST00000256474.3:c.-1_20dup MANE Select	ENSP00000256474.3:p.Glu6_Asn7insLysMetProArgArgAlaGlu
ENST00000256474.2:c.-1_20dup	ENSP00000256474.2:p.Glu6_Asn7insLysMetProArgArgAlaGlu
ENST00000345392.2:c.-1_20dup	ENSP00000344757.2:p.Glu6_Asn7insLysMetProArgArgAlaGlu
NM_000551.3:c.-1_20dup , LRG_322t1:c.-1_20dup	NP_000542.1:p.Glu6_Asn7insLysMetProArgArgAlaGlu
NM_198156.2:c.-1_20dup	NP_937799.1:p.Glu6_Asn7insLysMetProArgArgAlaGlu
XM_011534078.1:c.-1_20dup	XP_011532380.1:p.Glu6_Asn7insLysMetProArgArgAlaGlu
NM_001354723.1:c.-1_20dup	NP_001341652.1:p.Glu6_Asn7insLysMetProArgArgAlaGlu
NM_000551.4:c.-1_20dup MANE Select	NP_000542.1:p.Glu6_Asn7insLysMetProArgArgAlaGlu
NM_001354723.2:c.-1_20dup	NP_001341652.1:p.Glu6_Asn7insLysMetProArgArgAlaGlu
NM_198156.3:c.-1_20dup	NP_937799.1:p.Glu6_Asn7insLysMetProArgArgAlaGlu