Canonical Allele Identifier: CA546893983

Gene: ATR

Linked Data

• dbSNP Id: rs1172524685
• gnomAD v2: 3-142281841-T-TA
• gnomAD v3: 3-142562999-T-TA
• gnomAD v4: 3-142562999-T-TA
• MyVariant Identifiers: chr3:g.142281841_142281842insA (hg19) ; chr3:g.142562999_142563000insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142563004dup , CM000665.2:g.142563004dup	GRCh38
NC_000003.11:g.142281846dup , CM000665.1:g.142281846dup	GRCh37
NC_000003.10:g.143764536dup	NCBI36
NG_008951.1:g.20827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.402dup MANE Select	ENSP00000343741.4:p.Lys135Ter
ENST00000515149.3:c.293-1579dup	ENSP00000425897.3:n.293-1579dup
ENST00000653868.1:n.431dup
ENST00000657914.1:n.2760dup
ENST00000659195.1:n.2467dup
ENST00000661310.1:c.402dup	ENSP00000499589.1:p.Lys135Ter
ENST00000350721.8:c.402dup	ENSP00000343741.4:p.Lys135Ter
ENST00000507148.1:c.293-652dup	ENSP00000426595.1:n.293-652dup
NM_001184.3:c.402dup	NP_001175.2:p.Lys135Ter
XM_011512924.1:c.402dup	XP_011511226.1:p.Lys135Ter
XM_011512925.1:c.402dup	XP_011511227.1:p.Lys135Ter
XM_011512926.1:c.402dup	XP_011511228.1:p.Lys135Ter
XM_011512927.1:c.402dup	XP_011511229.1:p.Lys135Ter
XR_924147.1:n.491dup
XR_924148.1:n.491dup
XR_924149.1:n.491dup
NM_001354579.1:c.402dup	NP_001341508.1:p.Lys135Ter
XR_001740179.2:n.491dup
XR_001740180.2:n.491dup
XR_001740181.2:n.491dup
XR_001740182.1:n.491dup
XR_002959543.1:n.491dup
XR_924148.2:n.491dup
NM_001184.4:c.402dup MANE Select	NP_001175.2:p.Lys135Ter
NM_001354579.2:c.402dup	NP_001341508.1:p.Lys135Ter