Canonical Allele Identifier: CA899914264

Gene: ATR

Linked Data

• dbSNP Id: rs1393054162
• gnomAD v3: 3-142513693-CAA-C
• gnomAD v4: 3-142513693-CAA-C
• MyVariant Identifiers: chr3:g.142232536_142232537del (hg19) ; chr3:g.142513694_142513695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513695_142513696del , CM000665.2:g.142513695_142513696del	GRCh38
NC_000003.11:g.142232537_142232538del , CM000665.1:g.142232537_142232538del	GRCh37
NC_000003.10:g.143715227_143715228del	NCBI36
NG_008951.1:g.70132_70133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4504-57_4504-56del MANE Select	ENSP00000343741.4:n.4504-57_4504-56del
ENST00000653868.1:n.4533-57_4533-56del
ENST00000656590.1:c.3294-57_3294-56del
ENST00000661310.1:c.4312-57_4312-56del	ENSP00000499589.1:n.4312-57_4312-56del
ENST00000350721.8:c.4504-57_4504-56del	ENSP00000343741.4:n.4504-57_4504-56del
NM_001184.3:c.4504-57_4504-56del	NP_001175.2:n.4504-57_4504-56del
XM_011512924.1:c.4510-57_4510-56del	XP_011511226.1:n.4510-57_4510-56del
XM_011512925.1:c.4318-57_4318-56del	XP_011511227.1:n.4318-57_4318-56del
XM_011512926.1:c.4510-57_4510-56del	XP_011511228.1:n.4510-57_4510-56del
XM_011512927.1:c.4510-57_4510-56del	XP_011511229.1:n.4510-57_4510-56del
XR_924147.1:n.4599-57_4599-56del
XR_924148.1:n.4599-57_4599-56del
XR_924149.1:n.4599-57_4599-56del
NM_001354579.1:c.4312-57_4312-56del	NP_001341508.1:n.4312-57_4312-56del
XR_001740179.2:n.4593-57_4593-56del
XR_001740180.2:n.4599-57_4599-56del
XR_001740181.2:n.4599-57_4599-56del
XR_001740182.1:n.4599-57_4599-56del
XR_002959543.1:n.4599-57_4599-56del
XR_924148.2:n.4599-57_4599-56del
NM_001184.4:c.4504-57_4504-56del MANE Select	NP_001175.2:n.4504-57_4504-56del
NM_001354579.2:c.4312-57_4312-56del	NP_001341508.1:n.4312-57_4312-56del