Canonical Allele Identifier: CA546893952

Gene: ATR

Linked Data

• dbSNP Id: rs1211301841
• gnomAD v2: 3-142272380-TATA-T
• gnomAD v3: 3-142553538-TATA-T
• gnomAD v4: 3-142553538-TATA-T
• MyVariant Identifiers: chr3:g.142272381_142272383del (hg19) ; chr3:g.142553539_142553541del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553542_142553544del , CM000665.2:g.142553542_142553544del	GRCh38
NC_000003.11:g.142272384_142272386del , CM000665.1:g.142272384_142272386del	GRCh37
NC_000003.10:g.143755074_143755076del	NCBI36
NG_008951.1:g.30286_30288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2633+99_2633+101del MANE Select	ENSP00000343741.4:n.2633+99_2633+101del
ENST00000515149.3:c.*1407+99_*1407+101del	ENSP00000425897.3:n.*1407+99_*1407+101del
ENST00000653868.1:n.2662+99_2662+101del
ENST00000656590.1:c.1423+99_1423+101del
ENST00000659195.1:n.5508+99_5508+101del
ENST00000661310.1:c.2441+99_2441+101del	ENSP00000499589.1:n.2441+99_2441+101del
ENST00000350721.8:c.2633+99_2633+101del	ENSP00000343741.4:n.2633+99_2633+101del
NM_001184.3:c.2633+99_2633+101del	NP_001175.2:n.2633+99_2633+101del
XM_011512924.1:c.2633+99_2633+101del	XP_011511226.1:n.2633+99_2633+101del
XM_011512925.1:c.2441+99_2441+101del	XP_011511227.1:n.2441+99_2441+101del
XM_011512926.1:c.2633+99_2633+101del	XP_011511228.1:n.2633+99_2633+101del
XM_011512927.1:c.2633+99_2633+101del	XP_011511229.1:n.2633+99_2633+101del
XR_924147.1:n.2722+99_2722+101del
XR_924148.1:n.2722+99_2722+101del
XR_924149.1:n.2722+99_2722+101del
NM_001354579.1:c.2441+99_2441+101del	NP_001341508.1:n.2441+99_2441+101del
XR_001740179.2:n.2722+99_2722+101del
XR_001740180.2:n.2722+99_2722+101del
XR_001740181.2:n.2722+99_2722+101del
XR_001740182.1:n.2722+99_2722+101del
XR_002959543.1:n.2722+99_2722+101del
XR_924148.2:n.2722+99_2722+101del
NM_001184.4:c.2633+99_2633+101del MANE Select	NP_001175.2:n.2633+99_2633+101del
NM_001354579.2:c.2441+99_2441+101del	NP_001341508.1:n.2441+99_2441+101del