Canonical Allele Identifier: CA2758703084
Gene: ATR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142562130_142562132del , CM000665.2:g.142562130_142562132del GRCh38
NC_000003.11:g.142280972_142280974del , CM000665.1:g.142280972_142280974del GRCh37
NC_000003.10:g.143763662_143763664del NCBI36
NG_008951.1:g.21697_21699del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.1170+102_1170+104del MANE Select ENSP00000343741.4:n.1170+102_1170+104del
ENST00000515149.3:c.293-709_293-707del ENSP00000425897.3:n.293-709_293-707del
ENST00000653868.1:n.1199+102_1199+104del
ENST00000657914.1:n.3528+102_3528+104del
ENST00000659195.1:n.3337_3339del
ENST00000661310.1:c.1170+102_1170+104del ENSP00000499589.1:n.1170+102_1170+104del
ENST00000350721.8:c.1170+102_1170+104del ENSP00000343741.4:n.1170+102_1170+104del
ENST00000507148.1:c.*106+102_*106+104del ENSP00000426595.1:n.*106+102_*106+104del
ENST00000515149.2:c.213+102_213+104del ENSP00000425897.2:n.213+102_213+104del
NM_001184.3:c.1170+102_1170+104del NP_001175.2:n.1170+102_1170+104del
XM_011512924.1:c.1170+102_1170+104del XP_011511226.1:n.1170+102_1170+104del
XM_011512925.1:c.1170+102_1170+104del XP_011511227.1:n.1170+102_1170+104del
XM_011512926.1:c.1170+102_1170+104del XP_011511228.1:n.1170+102_1170+104del
XM_011512927.1:c.1170+102_1170+104del XP_011511229.1:n.1170+102_1170+104del
XR_924147.1:n.1259+102_1259+104del
XR_924148.1:n.1259+102_1259+104del
XR_924149.1:n.1259+102_1259+104del
NM_001354579.1:c.1170+102_1170+104del NP_001341508.1:n.1170+102_1170+104del
XR_001740179.2:n.1259+102_1259+104del
XR_001740180.2:n.1259+102_1259+104del
XR_001740181.2:n.1259+102_1259+104del
XR_001740182.1:n.1259+102_1259+104del
XR_002959543.1:n.1259+102_1259+104del
XR_924148.2:n.1259+102_1259+104del
NM_001184.4:c.1170+102_1170+104del MANE Select NP_001175.2:n.1170+102_1170+104del
NM_001354579.2:c.1170+102_1170+104del NP_001341508.1:n.1170+102_1170+104del