Canonical Allele Identifier: CA2497028737
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142101_10142102insC , CM000665.2:g.10142101_10142102insC GRCh38
NC_000003.11:g.10183785_10183786insC , CM000665.1:g.10183785_10183786insC GRCh37
NC_000003.10:g.10158785_10158786insC NCBI36
NG_008212.3:g.5467_5468insC , LRG_322:g.5467_5468insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.254_255insC ENSP00000512434.1:p.Pro86AlafsTer?
ENST00000696143.1:c.254_255insC ENSP00000512435.1:p.Pro86AlafsTer?
ENST00000696153.1:c.254_255insC ENSP00000512444.1:p.Pro86AlafsTer?
ENST00000256474.3:c.254_255insC MANE Select ENSP00000256474.3:p.Pro86AlafsTer?
ENST00000256474.2:c.254_255insC ENSP00000256474.2:p.Pro86AlafsTer?
ENST00000345392.2:c.254_255insC ENSP00000344757.2:p.Pro86AlafsTer?
NM_000551.3:c.254_255insC , LRG_322t1:c.254_255insC NP_000542.1:p.Pro86AlafsTer?
NM_198156.2:c.254_255insC NP_937799.1:p.Pro86AlafsTer?
XM_011534078.1:c.254_255insC XP_011532380.1:p.Pro86AlafsTer?
NM_001354723.1:c.254_255insC NP_001341652.1:p.Pro86AlafsTer?
NM_000551.4:c.254_255insC MANE Select NP_000542.1:p.Pro86AlafsTer?
NM_001354723.2:c.254_255insC NP_001341652.1:p.Pro86AlafsTer?
NM_198156.3:c.254_255insC NP_937799.1:p.Pro86AlafsTer?