Canonical Allele Identifier: CA10616202
Community Standard Title: NM_130384.3(ATRIP):c.*272del

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48465826del , CM000665.2:g.48465826del GRCh38
NC_000003.11:g.48507225del , CM000665.1:g.48507225del GRCh37
NC_000003.10:g.48482229del NCBI36
NG_009820.1:g.4997del
NG_033100.1:g.40036del
NG_041782.1:g.24117del
NG_009820.2:g.4997del

Transcript Alleles

HGVS Amino-acid Change
NM_130384.3:c.*272del (ATRIP) MANE Select NP_569055.1:n.*272del
ENST00000320211.10:c.*272del (ATRIP) MANE Select ENSP00000323099.3:n.*272del
NM_001271022.2:c.*272del (ATRIP) NP_001257951.1:n.*272del
NM_001271023.2:c.*272del (ATRIP) NP_001257952.1:n.*272del
NM_007248.3:c.-362del (TREX1) NP_009179.2:n.-362del
NM_016381.5:c.-665del (TREX1) NP_057465.1:n.-665del
NM_032166.4:c.*272del (ATRIP) NP_115542.2:n.*272del
NM_033629.4:c.-510del (TREX1) NP_338599.1:n.-510del
NR_153405.1:n.2800del
ENST00000296443.11:c.-510del ENSP00000296443.11:n.-510del
ENST00000433541.1:c.-517del (TREX1) ENSP00000412404.1:n.-517del
ENST00000634384.1:c.*2311del ENSP00000489041.1:n.*2311del
ENST00000634384.2:c.2086del (ATRIP)
ENST00000635452.1:n.378del
ENST00000635464.1:c.2444del ENSP00000489199.1:n.2444del