Canonical Allele Identifier: CA7009184
Community Standard Title: NM_015057.5(MYCBP2):c.6564_6566del (p.Glu2188del)
Gene: MYCBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77161943_77161945del , CM000675.2:g.77161943_77161945del GRCh38
NC_000013.10:g.77736078_77736080del , CM000675.1:g.77736078_77736080del GRCh37
NC_000013.9:g.76634079_76634081del NCBI36
NG_053031.1:g.170104_170106del

Transcript Alleles

HGVS Amino-acid Change
NM_015057.5:c.6564_6566del MANE Select NP_055872.4:p.Glu2188del
ENST00000544440.7:c.6564_6566del MANE Select ENSP00000444596.2:p.Glu2188del
NM_015057.4:c.6564_6566del NP_055872.4:p.Glu2188del
ENST00000357337.10:c.6450_6452del ENSP00000349892.5:p.Glu2150del
ENST00000357337.11:c.6564_6566del ENSP00000349892.6:p.Glu2188del
ENST00000486679.3:n.2900_2902del
ENST00000544440.6:c.6450_6452del ENSP00000444596.1:p.Glu2150del
ENST00000682321.1:c.6564_6566del ENSP00000508023.1:p.Glu2188del
ENST00000683697.1:c.6564_6566del ENSP00000508153.1:p.Glu2188del
ENST00000683823.1:c.6564_6566del ENSP00000507196.1:p.Glu2188del
ENST00000684354.1:c.6564_6566del ENSP00000507330.1:p.Glu2188del
ENST00000695078.1:n.2900_2902del
ENST00000695079.1:c.6564_6566del ENSP00000511683.1:p.Glu2188del
ENST00000695080.1:c.6564_6566del ENSP00000511684.1:p.Glu2188del
ENST00000695081.1:c.6564_6566del ENSP00000511685.1:p.Glu2188del
ENST00000695086.1:n.2900_2902del
ENST00000695089.1:n.1135_1137del
XM_005266299.1:c.6564_6566del XP_005266356.1:p.Glu2188del
XM_005266299.3:c.6564_6566del XP_005266356.1:p.Glu2188del
XM_006719779.1:c.6564_6566del XP_006719842.1:p.Glu2188del
XM_006719779.3:c.6564_6566del XP_006719842.1:p.Glu2188del
XM_006719780.1:c.6564_6566del XP_006719843.1:p.Glu2188del
XM_006719780.3:c.6564_6566del XP_006719843.1:p.Glu2188del
XM_006719781.1:c.6564_6566del XP_006719844.1:p.Glu2188del
XM_006719781.3:c.6564_6566del XP_006719844.1:p.Glu2188del
XM_006719782.1:c.6564_6566del XP_006719845.1:p.Glu2188del
XM_006719782.3:c.6564_6566del XP_006719845.1:p.Glu2188del
XM_006719783.1:c.6564_6566del XP_006719846.1:p.Glu2188del
XM_006719783.3:c.6564_6566del XP_006719846.1:p.Glu2188del
XM_006719784.1:c.6456_6458del XP_006719847.1:p.Glu2152del
XM_006719784.3:c.6456_6458del XP_006719847.1:p.Glu2152del
XM_006719785.1:c.6564_6566del XP_006719848.1:p.Glu2188del
XM_006719785.3:c.6564_6566del XP_006719848.1:p.Glu2188del
XM_006719786.1:c.6564_6566del XP_006719849.1:p.Glu2188del
XM_006719786.3:c.6564_6566del XP_006719849.1:p.Glu2188del
XM_006719787.1:c.6564_6566del XP_006719850.1:p.Glu2188del
XM_006719787.3:c.6564_6566del XP_006719850.1:p.Glu2188del
XM_006719788.1:c.6564_6566del XP_006719851.1:p.Glu2188del
XM_006719788.3:c.6564_6566del XP_006719851.1:p.Glu2188del
XM_006719789.1:c.6564_6566del XP_006719852.1:p.Glu2188del
XM_006719789.3:c.6564_6566del XP_006719852.1:p.Glu2188del
XM_011535003.1:c.6363_6365del XP_011533305.1:p.Glu2121del
XM_011535004.1:c.6237_6239del XP_011533306.1:p.Glu2079del
XM_011535004.2:c.6237_6239del XP_011533306.1:p.Glu2079del
XM_011535005.1:c.3699_3701del XP_011533307.1:p.Glu1233del
XM_011535005.2:c.3699_3701del XP_011533307.1:p.Glu1233del
XM_017020454.2:c.6564_6566del XP_016875943.1:p.Glu2188del
XM_017020455.2:c.6564_6566del XP_016875944.1:p.Glu2188del
XM_017020456.2:c.6564_6566del XP_016875945.1:p.Glu2188del
XM_017020457.2:c.6564_6566del XP_016875946.1:p.Glu2188del
XM_017020458.2:c.6456_6458del XP_016875947.1:p.Glu2152del
XM_017020459.2:c.6456_6458del XP_016875948.1:p.Glu2152del
XM_017020460.2:c.6564_6566del XP_016875949.1:p.Glu2188del
XM_017020461.2:c.6564_6566del XP_016875950.1:p.Glu2188del
XM_017020462.2:c.6564_6566del XP_016875951.1:p.Glu2188del
XM_017020463.2:c.6456_6458del XP_016875952.1:p.Glu2152del
XM_017020464.2:c.6564_6566del XP_016875953.1:p.Glu2188del
XM_017020465.2:c.6456_6458del XP_016875954.1:p.Glu2152del
XM_017020466.2:c.6564_6566del XP_016875955.1:p.Glu2188del
XM_017020467.2:c.6564_6566del XP_016875956.1:p.Glu2188del
XM_017020468.1:c.5769_5771del XP_016875957.1:p.Glu1923del