Canonical Allele Identifier: CA1407031686
Gene: ATR HGNC NCBI

Linked Data

dbSNP Id: rs2034925664

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142562681del , CM000665.2:g.142562681del GRCh38
NC_000003.11:g.142281523del , CM000665.1:g.142281523del GRCh37
NC_000003.10:g.143764213del NCBI36
NG_008951.1:g.21146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.721del MANE Select ENSP00000343741.4:p.Ser241ValfsTer7
ENST00000515149.3:c.293-1260del ENSP00000425897.3:n.293-1260del
ENST00000653868.1:n.750del
ENST00000657914.1:n.3079del
ENST00000659195.1:n.2786del
ENST00000661310.1:c.721del ENSP00000499589.1:p.Ser241ValfsTer7
ENST00000350721.8:c.721del ENSP00000343741.4:p.Ser241ValfsTer7
ENST00000507148.1:c.293-333del ENSP00000426595.1:n.293-333del
NM_001184.3:c.721del NP_001175.2:p.Ser241ValfsTer7
XM_011512924.1:c.721del XP_011511226.1:p.Ser241ValfsTer7
XM_011512925.1:c.721del XP_011511227.1:p.Ser241ValfsTer7
XM_011512926.1:c.721del XP_011511228.1:p.Ser241ValfsTer7
XM_011512927.1:c.721del XP_011511229.1:p.Ser241ValfsTer7
XR_924147.1:n.810del
XR_924148.1:n.810del
XR_924149.1:n.810del
NM_001354579.1:c.721del NP_001341508.1:p.Ser241ValfsTer7
XR_001740179.2:n.810del
XR_001740180.2:n.810del
XR_001740181.2:n.810del
XR_001740182.1:n.810del
XR_002959543.1:n.810del
XR_924148.2:n.810del
NM_001184.4:c.721del MANE Select NP_001175.2:p.Ser241ValfsTer7
NM_001354579.2:c.721del NP_001341508.1:p.Ser241ValfsTer7