Canonical Allele Identifier: CA2504466624
Gene: ADAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956831_30956837del , CM000679.2:g.30956831_30956837del GRCh38
NC_000017.10:g.29283849_29283855del , CM000679.1:g.29283849_29283855del GRCh37
NC_000017.9:g.26307975_26307981del NCBI36
NG_051975.1:g.40096_40102del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.1111+362_1111+368del MANE Select ENSP00000329468.3:n.1111+362_1111+368del
ENST00000330889.7:c.1111+362_1111+368del ENSP00000329468.3:n.1111+362_1111+368del
ENST00000470962.1:n.531+362_531+368del
ENST00000580525.5:c.1129+362_1129+368del ENSP00000464121.1:n.1129+362_1129+368del
ENST00000584828.5:c.402+440_402+446del
ENST00000585130.5:c.*710+362_*710+368del ENSP00000464120.1:n.*710+362_*710+368del
NM_018404.2:c.1111+362_1111+368del NP_060874.1:n.1111+362_1111+368del
XM_005258008.2:c.1129+362_1129+368del XP_005258065.1:n.1129+362_1129+368del
XM_005258011.2:c.1066+362_1066+368del XP_005258068.1:n.1066+362_1066+368del
XM_006721973.2:c.1051+440_1051+446del XP_006722036.1:n.1051+440_1051+446del
XM_011524993.1:c.1126+362_1126+368del XP_011523295.1:n.1126+362_1126+368del
XM_011524994.1:c.1108+362_1108+368del XP_011523296.1:n.1108+362_1108+368del
NM_001346712.1:c.1129+362_1129+368del NP_001333641.1:n.1129+362_1129+368del
NM_001346714.1:c.1108+362_1108+368del NP_001333643.1:n.1108+362_1108+368del
NM_001346716.1:c.1033+440_1033+446del NP_001333645.1:n.1033+440_1033+446del
NR_144488.1:n.1310+362_1310+368del
XM_024450832.1:c.1126+362_1126+368del XP_024306600.1:n.1126+362_1126+368del
XM_024450833.1:c.1066+362_1066+368del XP_024306601.1:n.1066+362_1066+368del
XM_024450834.1:c.1051+440_1051+446del XP_024306602.1:n.1051+440_1051+446del
XM_024450835.1:c.745+362_745+368del XP_024306603.1:n.745+362_745+368del
NM_018404.3:c.1111+362_1111+368del MANE Select NP_060874.1:n.1111+362_1111+368del
NM_001346712.2:c.1129+362_1129+368del NP_001333641.1:n.1129+362_1129+368del
NM_001346714.2:c.1108+362_1108+368del NP_001333643.1:n.1108+362_1108+368del
NM_001346716.2:c.1033+440_1033+446del NP_001333645.1:n.1033+440_1033+446del
NR_144488.2:n.1101+362_1101+368del