Canonical Allele Identifier: CA546894040

Gene: ATR

Linked Data

• dbSNP Id: rs1470714929
• gnomAD v2: 3-142272283-C-CACACACACACACACACAT
• gnomAD v4: 3-142553441-C-CACACACACACACACACAT
• MyVariant Identifiers: chr3:g.142272283_142272284insACACACACACACACACAT (hg19) ; chr3:g.142553441_142553442insACACACACACACACACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553451_142553468dup , CM000665.2:g.142553451_142553468dup	GRCh38
NC_000003.11:g.142272293_142272310dup , CM000665.1:g.142272293_142272310dup	GRCh37
NC_000003.10:g.143754983_143755000dup	NCBI36
NG_008951.1:g.30368_30385dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2634-61_2634-44dup MANE Select	ENSP00000343741.4:n.2634-61_2634-44dup
ENST00000515149.3:c.*1408-61_*1408-44dup	ENSP00000425897.3:n.*1408-61_*1408-44dup
ENST00000653868.1:n.2663-61_2663-44dup
ENST00000656590.1:c.1424-61_1424-44dup
ENST00000659195.1:n.5509-61_5509-44dup
ENST00000661310.1:c.2442-61_2442-44dup	ENSP00000499589.1:n.2442-61_2442-44dup
ENST00000350721.8:c.2634-61_2634-44dup	ENSP00000343741.4:n.2634-61_2634-44dup
NM_001184.3:c.2634-61_2634-44dup	NP_001175.2:n.2634-61_2634-44dup
XM_011512924.1:c.2634-61_2634-44dup	XP_011511226.1:n.2634-61_2634-44dup
XM_011512925.1:c.2442-61_2442-44dup	XP_011511227.1:n.2442-61_2442-44dup
XM_011512926.1:c.2634-61_2634-44dup	XP_011511228.1:n.2634-61_2634-44dup
XM_011512927.1:c.2634-61_2634-44dup	XP_011511229.1:n.2634-61_2634-44dup
XR_924147.1:n.2723-61_2723-44dup
XR_924148.1:n.2723-61_2723-44dup
XR_924149.1:n.2723-61_2723-44dup
NM_001354579.1:c.2442-61_2442-44dup	NP_001341508.1:n.2442-61_2442-44dup
XR_001740179.2:n.2723-61_2723-44dup
XR_001740180.2:n.2723-61_2723-44dup
XR_001740181.2:n.2723-61_2723-44dup
XR_001740182.1:n.2723-61_2723-44dup
XR_002959543.1:n.2723-61_2723-44dup
XR_924148.2:n.2723-61_2723-44dup
NM_001184.4:c.2634-61_2634-44dup MANE Select	NP_001175.2:n.2634-61_2634-44dup
NM_001354579.2:c.2442-61_2442-44dup	NP_001341508.1:n.2442-61_2442-44dup