Canonical Allele Identifier: CA2704282057

Gene: ATR

Linked Data

• dbSNP Id: rs2108487951

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562720del , CM000665.2:g.142562720del	GRCh38
NC_000003.11:g.142281562del , CM000665.1:g.142281562del	GRCh37
NC_000003.10:g.143764252del	NCBI36
NG_008951.1:g.21108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.683del MANE Select	ENSP00000343741.4:p.Leu228TyrfsTer5
ENST00000515149.3:c.293-1298del	ENSP00000425897.3:n.293-1298del
ENST00000653868.1:n.712del
ENST00000657914.1:n.3041del
ENST00000659195.1:n.2748del
ENST00000661310.1:c.683del	ENSP00000499589.1:p.Leu228TyrfsTer5
ENST00000350721.8:c.683del	ENSP00000343741.4:p.Leu228TyrfsTer5
ENST00000507148.1:c.293-371del	ENSP00000426595.1:n.293-371del
NM_001184.3:c.683del	NP_001175.2:p.Leu228TyrfsTer5
XM_011512924.1:c.683del	XP_011511226.1:p.Leu228TyrfsTer5
XM_011512925.1:c.683del	XP_011511227.1:p.Leu228TyrfsTer5
XM_011512926.1:c.683del	XP_011511228.1:p.Leu228TyrfsTer5
XM_011512927.1:c.683del	XP_011511229.1:p.Leu228TyrfsTer5
XR_924147.1:n.772del
XR_924148.1:n.772del
XR_924149.1:n.772del
NM_001354579.1:c.683del	NP_001341508.1:p.Leu228TyrfsTer5
XR_001740179.2:n.772del
XR_001740180.2:n.772del
XR_001740181.2:n.772del
XR_001740182.1:n.772del
XR_002959543.1:n.772del
XR_924148.2:n.772del
NM_001184.4:c.683del MANE Select	NP_001175.2:p.Leu228TyrfsTer5
NM_001354579.2:c.683del	NP_001341508.1:p.Leu228TyrfsTer5