Canonical Allele Identifier: CA398979689
Gene: ADAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.30956472del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956473del , CM000679.2:g.30956473del GRCh38
NC_000017.10:g.29283491del , CM000679.1:g.29283491del GRCh37
NC_000017.9:g.26307617del NCBI36
NG_051975.1:g.39738del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.1111+4del MANE Select ENSP00000329468.3:n.1111+4del
ENST00000330889.7:c.1111+4del ENSP00000329468.3:n.1111+4del
ENST00000470962.1:n.531+4del
ENST00000480980.1:n.549del
ENST00000580525.5:c.1129+4del ENSP00000464121.1:n.1129+4del
ENST00000584828.5:c.402+82del
ENST00000585130.5:c.*710+4del ENSP00000464120.1:n.*710+4del
NM_018404.2:c.1111+4del NP_060874.1:n.1111+4del
XM_005258008.2:c.1129+4del XP_005258065.1:n.1129+4del
XM_005258011.2:c.1066+4del XP_005258068.1:n.1066+4del
XM_006721973.2:c.1051+82del XP_006722036.1:n.1051+82del
XM_011524993.1:c.1126+4del XP_011523295.1:n.1126+4del
XM_011524994.1:c.1108+4del XP_011523296.1:n.1108+4del
NM_001346712.1:c.1129+4del NP_001333641.1:n.1129+4del
NM_001346714.1:c.1108+4del NP_001333643.1:n.1108+4del
NM_001346716.1:c.1033+82del NP_001333645.1:n.1033+82del
NR_144488.1:n.1310+4del
XM_024450831.1:c.1115del XP_024306599.1:p.Lys372ArgfsTer5
XM_024450832.1:c.1126+4del XP_024306600.1:n.1126+4del
XM_024450833.1:c.1066+4del XP_024306601.1:n.1066+4del
XM_024450834.1:c.1051+82del XP_024306602.1:n.1051+82del
XM_024450835.1:c.745+4del XP_024306603.1:n.745+4del
NM_018404.3:c.1111+4del MANE Select NP_060874.1:n.1111+4del
NM_001346712.2:c.1129+4del NP_001333641.1:n.1129+4del
NM_001346714.2:c.1108+4del NP_001333643.1:n.1108+4del
NM_001346716.2:c.1033+82del NP_001333645.1:n.1033+82del
NR_144488.2:n.1101+4del