Canonical Allele Identifier: CA645573657
Gene: ETV6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11853514_11853515del , CM000674.2:g.11853514_11853515del GRCh38
NC_000012.11:g.12006448_12006449del , CM000674.1:g.12006448_12006449del GRCh37
NC_000012.10:g.11897715_11897716del NCBI36
NG_011443.1:g.208661_208662del , LRG_609:g.208661_208662del

Transcript Alleles

HGVS Amino-acid Change
NM_001987.5:c.416_417del MANE Select NP_001978.1:p.Ser139TyrfsTer14
ENST00000396373.9:c.416_417del MANE Select ENSP00000379658.3:p.Ser139TyrfsTer14
NM_001987.4:c.416_417del , LRG_609t1:c.416_417del NP_001978.1:p.Ser139TyrfsTer14
ENST00000396373.8:c.416_417del ENSP00000379658.3:p.Ser139TyrfsTer14
XM_011520607.1:c.413_414del XP_011518909.1:p.Ser138TyrfsTer14
XM_011520607.2:c.413_414del XP_011518909.1:p.Ser138TyrfsTer14
XM_011520608.1:c.389_390del XP_011518910.1:p.Ser130TyrfsTer14
XM_011520608.2:c.389_390del XP_011518910.1:p.Ser130TyrfsTer14
XM_011520609.1:c.152_153del XP_011518911.1:p.Ser51TyrfsTer14
XM_011520609.2:c.152_153del XP_011518911.1:p.Ser51TyrfsTer14
XM_011520610.1:c.152_153del XP_011518912.1:p.Ser51TyrfsTer14
XM_011520611.1:c.152_153del XP_011518913.1:p.Ser51TyrfsTer14
XM_011520611.2:c.152_153del XP_011518913.1:p.Ser51TyrfsTer14
XM_011520612.1:c.-206_-205del XP_011518914.1:n.-206_-205del
XM_011520612.2:c.-206_-205del XP_011518914.1:n.-206_-205del
XM_017018990.1:c.328+14210_328+14211del XP_016874479.1:n.328+14210_328+14211del
XM_017018991.1:c.152_153del XP_016874480.1:p.Ser51TyrfsTer14