Canonical Allele Identifier: CA2704285589
Gene: ATR HGNC NCBI

Linked Data

dbSNP Id: rs2108464456

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142553735_142553736insGGGG , CM000665.2:g.142553735_142553736insGGGG GRCh38
NC_000003.11:g.142272577_142272578insGGGG , CM000665.1:g.142272577_142272578insGGGG GRCh37
NC_000003.10:g.143755267_143755268insGGGG NCBI36
NG_008951.1:g.30091_30092insCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.2537_2538insCCCC MANE Select ENSP00000343741.4:p.Val847ProfsTer18
ENST00000515149.3:c.*1311_*1312insCCCC ENSP00000425897.3:n.*1311_*1312insCCCC
ENST00000653868.1:n.2566_2567insCCCC
ENST00000656590.1:c.1327_1328insCCCC
ENST00000659195.1:n.5412_5413insCCCC
ENST00000661310.1:c.2345_2346insCCCC ENSP00000499589.1:p.Val783ProfsTer18
ENST00000350721.8:c.2537_2538insCCCC ENSP00000343741.4:p.Val847ProfsTer18
NM_001184.3:c.2537_2538insCCCC NP_001175.2:p.Val847ProfsTer18
XM_011512924.1:c.2537_2538insCCCC XP_011511226.1:p.Val847ProfsTer18
XM_011512925.1:c.2345_2346insCCCC XP_011511227.1:p.Val783ProfsTer18
XM_011512926.1:c.2537_2538insCCCC XP_011511228.1:p.Val847ProfsTer18
XM_011512927.1:c.2537_2538insCCCC XP_011511229.1:p.Val847ProfsTer18
XR_924147.1:n.2626_2627insCCCC
XR_924148.1:n.2626_2627insCCCC
XR_924149.1:n.2626_2627insCCCC
NM_001354579.1:c.2345_2346insCCCC NP_001341508.1:p.Val783ProfsTer18
XR_001740179.2:n.2626_2627insCCCC
XR_001740180.2:n.2626_2627insCCCC
XR_001740181.2:n.2626_2627insCCCC
XR_001740182.1:n.2626_2627insCCCC
XR_002959543.1:n.2626_2627insCCCC
XR_924148.2:n.2626_2627insCCCC
NM_001184.4:c.2537_2538insCCCC MANE Select NP_001175.2:p.Val847ProfsTer18
NM_001354579.2:c.2345_2346insCCCC NP_001341508.1:p.Val783ProfsTer18