Canonical Allele Identifier: CA2376320

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48464058_48464063del , CM000665.2:g.48464058_48464063del	GRCh38
NC_000003.11:g.48505457_48505462del , CM000665.1:g.48505457_48505462del	GRCh37
NC_000003.10:g.48480461_48480466del	NCBI36
NG_009820.1:g.3229_3234del
NG_041782.1:g.22349_22354del
NG_009820.2:g.3229_3234del

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.1900_1905del MANE Select	NP_569055.1:p.Leu634_Leu635del
ENST00000320211.10:c.1900_1905del MANE Select	ENSP00000323099.3:p.Leu634_Leu635del
NM_001271022.1:c.1519_1524del	NP_001257951.1:p.Leu507_Leu508del
NM_001271022.2:c.1519_1524del	NP_001257951.1:p.Leu507_Leu508del
NM_001271023.1:c.1621_1626del	NP_001257952.1:p.Leu541_Leu542del
NM_001271023.2:c.1621_1626del	NP_001257952.1:p.Leu541_Leu542del
NM_032166.3:c.1900_1905del	NP_115542.2:p.Leu634_Leu635del
NM_032166.4:c.1900_1905del	NP_115542.2:p.Leu634_Leu635del
NM_130384.2:c.1900_1905del	NP_569055.1:p.Leu634_Leu635del
NR_153405.1:n.2052_2057del
ENST00000320211.8:c.1900_1905del	ENSP00000323099.3:p.Leu634_Leu635del
ENST00000346691.9:c.1900_1905del	ENSP00000302338.5:p.Leu634_Leu635del
ENST00000357105.10:c.1519_1524del	ENSP00000349620.6:p.Leu507_Leu508del
ENST00000412052.4:c.1621_1626del	ENSP00000400930.1:p.Leu541_Leu542del
ENST00000634384.1:c.*1563_*1568del	ENSP00000489041.1:n.*1563_*1568del
ENST00000634384.2:c.1338_1343del
ENST00000635464.1:c.1696_1701del	ENSP00000489199.1:n.1696_1701del
ENST00000639561.1:c.*1563_*1568del	ENSP00000491983.1:n.*1563_*1568del