Canonical Allele Identifier: CA84745651

Gene: ATR

Linked Data

• ClinVar Variation Id: 2723898
• ClinVar RCV Id: RCV003561521
• dbSNP Id: rs868169034
• gnomAD v3: 3-142553231-CAG-C
• gnomAD v4: 3-142553231-CAG-C
• MyVariant Identifiers: chr3:g.142272074_142272075del (hg19) ; chr3:g.142553233_142553234del (hg38) ; chr3:g.142553232_142553233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553233_142553234del , CM000665.2:g.142553233_142553234del	GRCh38
NC_000003.11:g.142272075_142272076del , CM000665.1:g.142272075_142272076del	GRCh37
NC_000003.10:g.143754765_143754766del	NCBI36
NG_008951.1:g.30594_30595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2799_2800del MANE Select	ENSP00000343741.4:p.Ile933MetfsTer11
ENST00000515149.3:c.*1573_*1574del	ENSP00000425897.3:n.*1573_*1574del
ENST00000653868.1:n.2828_2829del
ENST00000656582.1:n.58_59del
ENST00000656590.1:c.1589_1590del
ENST00000659195.1:n.5674_5675del
ENST00000661310.1:c.2607_2608del	ENSP00000499589.1:p.Ile869MetfsTer11
ENST00000350721.8:c.2799_2800del	ENSP00000343741.4:p.Ile933MetfsTer11
NM_001184.3:c.2799_2800del	NP_001175.2:p.Ile933MetfsTer11
XM_011512924.1:c.2799_2800del	XP_011511226.1:p.Ile933MetfsTer11
XM_011512925.1:c.2607_2608del	XP_011511227.1:p.Ile869MetfsTer11
XM_011512926.1:c.2799_2800del	XP_011511228.1:p.Ile933MetfsTer11
XM_011512927.1:c.2799_2800del	XP_011511229.1:p.Ile933MetfsTer11
XR_924147.1:n.2888_2889del
XR_924148.1:n.2888_2889del
XR_924149.1:n.2888_2889del
NM_001354579.1:c.2607_2608del	NP_001341508.1:p.Ile869MetfsTer11
XR_001740179.2:n.2888_2889del
XR_001740180.2:n.2888_2889del
XR_001740181.2:n.2888_2889del
XR_001740182.1:n.2888_2889del
XR_002959543.1:n.2888_2889del
XR_924148.2:n.2888_2889del
NM_001184.4:c.2799_2800del MANE Select	NP_001175.2:p.Ile933MetfsTer11
NM_001354579.2:c.2607_2608del	NP_001341508.1:p.Ile869MetfsTer11