Canonical Allele Identifier: CA899913846

Gene: ATR

Linked Data

• dbSNP Id: rs1219979587
• gnomAD v3: 3-142513427-CCTTT-C
• gnomAD v4: 3-142513427-CCTTT-C
• MyVariant Identifiers: chr3:g.142232270_142232273del (hg19) ; chr3:g.142513428_142513431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513430_142513433del , CM000665.2:g.142513430_142513433del	GRCh38
NC_000003.11:g.142232272_142232275del , CM000665.1:g.142232272_142232275del	GRCh37
NC_000003.10:g.143714962_143714965del	NCBI36
NG_008951.1:g.70396_70399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4641+70_4641+73del MANE Select	ENSP00000343741.4:n.4641+70_4641+73del
ENST00000653868.1:n.4670+70_4670+73del
ENST00000656590.1:c.3431+70_3431+73del
ENST00000661310.1:c.4449+70_4449+73del	ENSP00000499589.1:n.4449+70_4449+73del
ENST00000666943.1:n.105+70_105+73del
ENST00000350721.8:c.4641+70_4641+73del	ENSP00000343741.4:n.4641+70_4641+73del
NM_001184.3:c.4641+70_4641+73del	NP_001175.2:n.4641+70_4641+73del
XM_011512924.1:c.4647+70_4647+73del	XP_011511226.1:n.4647+70_4647+73del
XM_011512925.1:c.4455+70_4455+73del	XP_011511227.1:n.4455+70_4455+73del
XM_011512926.1:c.4647+70_4647+73del	XP_011511228.1:n.4647+70_4647+73del
XM_011512927.1:c.4647+70_4647+73del	XP_011511229.1:n.4647+70_4647+73del
XR_924147.1:n.4736+70_4736+73del
XR_924148.1:n.4736+70_4736+73del
XR_924149.1:n.4736+70_4736+73del
NM_001354579.1:c.4449+70_4449+73del	NP_001341508.1:n.4449+70_4449+73del
XR_001740179.2:n.4730+70_4730+73del
XR_001740180.2:n.4736+70_4736+73del
XR_001740181.2:n.4736+70_4736+73del
XR_001740182.1:n.4736+70_4736+73del
XR_002959543.1:n.4736+70_4736+73del
XR_924148.2:n.4736+70_4736+73del
NM_001184.4:c.4641+70_4641+73del MANE Select	NP_001175.2:n.4641+70_4641+73del
NM_001354579.2:c.4449+70_4449+73del	NP_001341508.1:n.4449+70_4449+73del