Canonical Allele Identifier: CA2376210

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48460539_48460544del , CM000665.2:g.48460539_48460544del	GRCh38
NC_000003.11:g.48501938_48501943del , CM000665.1:g.48501938_48501943del	GRCh37
NC_000003.10:g.48476942_48476947del	NCBI36
NG_041782.1:g.18830_18835del

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.1485_1490del MANE Select	NP_569055.1:p.Leu496_Leu497del
ENST00000320211.10:c.1485_1490del MANE Select	ENSP00000323099.3:p.Leu496_Leu497del
NM_001271022.1:c.1104_1109del	NP_001257951.1:p.Leu369_Leu370del
NM_001271022.2:c.1104_1109del	NP_001257951.1:p.Leu369_Leu370del
NM_001271023.1:c.1206_1211del	NP_001257952.1:p.Leu403_Leu404del
NM_001271023.2:c.1206_1211del	NP_001257952.1:p.Leu403_Leu404del
NM_032166.3:c.1485_1490del	NP_115542.2:p.Leu496_Leu497del
NM_032166.4:c.1485_1490del	NP_115542.2:p.Leu496_Leu497del
NM_130384.2:c.1485_1490del	NP_569055.1:p.Leu496_Leu497del
NR_153405.1:n.1552_1557del
ENST00000320211.8:c.1485_1490del	ENSP00000323099.3:p.Leu496_Leu497del
ENST00000346691.9:c.1485_1490del	ENSP00000302338.5:p.Leu496_Leu497del
ENST00000357105.10:c.1104_1109del	ENSP00000349620.6:p.Leu369_Leu370del
ENST00000412052.4:c.1206_1211del	ENSP00000400930.1:p.Leu403_Leu404del
ENST00000634384.1:c.*1148_*1153del	ENSP00000489041.1:n.*1148_*1153del
ENST00000634384.2:c.923_928del
ENST00000635464.1:c.1365+120_1365+125del	ENSP00000489199.1:n.1365+120_1365+125del
ENST00000639561.1:c.*1148_*1153del	ENSP00000491983.1:n.*1148_*1153del