Canonical Allele Identifier: CA9382912
Community Standard Title: NM_014209.4(ETV2):c.350del (p.Gly117AlafsTer?)
Gene: ETV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35643388del , CM000681.2:g.35643388del GRCh38
NC_000019.9:g.36134290del , CM000681.1:g.36134290del GRCh37
NC_000019.8:g.40826130del NCBI36
NG_012193.1:g.136del

Transcript Alleles

HGVS Amino-acid Change
NM_014209.4:c.350del MANE Select NP_055024.2:p.Gly117AlafsTer?
ENST00000402764.6:c.350del MANE Select ENSP00000384524.2:p.Gly117AlafsTer?
NM_001300974.1:c.71del NP_001287903.1:p.Gly24AlafsTer?
NM_001300974.2:c.71del NP_001287903.1:p.Gly24AlafsTer?
NM_001304549.1:c.154+690del NP_001291478.1:n.154+690del
NM_001304549.2:c.154+690del NP_001291478.1:n.154+690del
NM_014209.3:c.350del NP_055024.2:p.Gly117AlafsTer?
ENST00000379023.8:c.154+690del ENSP00000368309.3:n.154+690del
ENST00000379026.6:c.434del ENSP00000368312.2:p.Gly145AlafsTer?
ENST00000403402.1:c.350del ENSP00000385369.1:p.Gly117AlafsTer?
ENST00000479824.5:c.71del ENSP00000468453.1:p.Gly24AlafsTer?
ENST00000619399.4:c.350del ENSP00000477924.1:p.Gly117AlafsTer?
ENST00000621247.4:c.350del ENSP00000480641.1:p.Gly117AlafsTer?
XM_005258652.2:c.434del XP_005258709.1:p.Gly145AlafsTer?
XM_005258653.2:c.269del XP_005258710.1:p.Gly90AlafsTer?
XM_011526624.1:c.71del XP_011524926.1:p.Gly24AlafsTer?
XM_011526624.2:c.71del XP_011524926.1:p.Gly24AlafsTer?
XM_017026472.1:c.353del XP_016881961.1:p.Gly118AlafsTer?