Canonical Allele Identifier: CA356418525
Gene: CC2D2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15567679_15567684del , CM000666.2:g.15567679_15567684del GRCh38
NC_000004.11:g.15569302_15569307del , CM000666.1:g.15569302_15569307del GRCh37
NC_000004.10:g.15178400_15178405del NCBI36
NG_013035.1:g.102814_102819del , LRG_697:g.102814_102819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.3306_3311del ENSP00000374303.8:p.Leu1103_Val1104del
ENST00000424120.6:c.3291_3296del MANE Select ENSP00000403465.1:p.Leu1098_Val1099del
ENST00000503292.6:c.3291_3296del ENSP00000421809.1:p.Leu1098_Val1099del
ENST00000506643.5:c.3144_3149del ENSP00000422931.2:p.Leu1049_Val1050del
ENST00000634028.2:c.3144_3149del ENSP00000488669.2:p.Leu1049_Val1050del
ENST00000650860.2:c.*297_*302del ENSP00000498775.1:n.*297_*302del
ENST00000674945.1:c.3144_3149del ENSP00000502333.1:p.Leu1049_Val1050del
ENST00000675619.1:n.4102_4107del
ENST00000675768.1:n.511_516del
ENST00000676337.1:c.*297_*302del ENSP00000501728.1:n.*297_*302del
ENST00000680586.1:n.3950_3955del
ENST00000389652.9:c.2768_2773del
ENST00000424120.5:c.3291_3296del ENSP00000403465.1:p.Leu1098_Val1099del
ENST00000503292.5:c.3291_3296del ENSP00000421809.1:p.Leu1098_Val1099del
ENST00000506643.4:c.1619_1624del
ENST00000634028.1:c.3274_3279del ENSP00000488669.1:n.3274_3279del
NM_001080522.2:c.3291_3296del , LRG_697t1:c.3291_3296del NP_001073991.2:p.Leu1098_Val1099del
XM_005248177.1:c.3291_3296del XP_005248234.1:p.Leu1098_Val1099del
XM_011513869.1:c.3291_3296del XP_011512171.1:p.Leu1098_Val1099del
XM_011513870.1:c.3291_3296del XP_011512172.1:p.Leu1098_Val1099del
XM_011513871.1:c.3144_3149del XP_011512173.1:p.Leu1049_Val1050del
XM_017008482.1:c.3144_3149del XP_016863971.1:p.Leu1049_Val1050del
XR_001741296.1:n.3536_3541del
NM_001378615.1:c.3291_3296del MANE Select NP_001365544.1:p.Leu1098_Val1099del
NM_001378617.1:c.3144_3149del NP_001365546.1:p.Leu1049_Val1050del
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