Canonical Allele Identifier: CA546573199

Gene: ATR

Linked Data

• dbSNP Id: rs893508545
• gnomAD v2: 3-142232730-C-CA
• gnomAD v3: 3-142513888-C-CA
• gnomAD v4: 3-142513888-C-CA
• MyVariant Identifiers: chr3:g.142232731_142232732insA (hg19) ; chr3:g.142232730_142232731insA (hg19) ; chr3:g.142513889_142513890insA (hg38) ; chr3:g.142513888_142513889insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513897dup , CM000665.2:g.142513897dup	GRCh38
NC_000003.11:g.142232739dup , CM000665.1:g.142232739dup	GRCh37
NC_000003.10:g.143715429dup	NCBI36
NG_008951.1:g.69938dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4504-251dup MANE Select	ENSP00000343741.4:n.4504-251dup
ENST00000653868.1:n.4533-251dup
ENST00000656590.1:c.3294-251dup
ENST00000661310.1:c.4312-251dup	ENSP00000499589.1:n.4312-251dup
ENST00000350721.8:c.4504-251dup	ENSP00000343741.4:n.4504-251dup
NM_001184.3:c.4504-251dup	NP_001175.2:n.4504-251dup
XM_011512924.1:c.4510-251dup	XP_011511226.1:n.4510-251dup
XM_011512925.1:c.4318-251dup	XP_011511227.1:n.4318-251dup
XM_011512926.1:c.4510-251dup	XP_011511228.1:n.4510-251dup
XM_011512927.1:c.4510-251dup	XP_011511229.1:n.4510-251dup
XR_924147.1:n.4599-251dup
XR_924148.1:n.4599-251dup
XR_924149.1:n.4599-251dup
NM_001354579.1:c.4312-251dup	NP_001341508.1:n.4312-251dup
XR_001740179.2:n.4593-251dup
XR_001740180.2:n.4599-251dup
XR_001740181.2:n.4599-251dup
XR_001740182.1:n.4599-251dup
XR_002959543.1:n.4599-251dup
XR_924148.2:n.4599-251dup
NM_001184.4:c.4504-251dup MANE Select	NP_001175.2:n.4504-251dup
NM_001354579.2:c.4312-251dup	NP_001341508.1:n.4312-251dup