Canonical Allele Identifier: CA899917016

Gene: ATR

Linked Data

• dbSNP Id: rs1183335779
• gnomAD v2: 3-142280960-TATAA-T
• gnomAD v3: 3-142562118-TATAA-T
• gnomAD v4: 3-142562118-TATAA-T
• MyVariant Identifiers: chr3:g.142280961_142280964del (hg19) ; chr3:g.142562119_142562122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562121_142562124del , CM000665.2:g.142562121_142562124del	GRCh38
NC_000003.11:g.142280963_142280966del , CM000665.1:g.142280963_142280966del	GRCh37
NC_000003.10:g.143763653_143763656del	NCBI36
NG_008951.1:g.21705_21708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.1170+110_1170+113del MANE Select	ENSP00000343741.4:n.1170+110_1170+113del
ENST00000515149.3:c.293-701_293-698del	ENSP00000425897.3:n.293-701_293-698del
ENST00000653868.1:n.1199+110_1199+113del
ENST00000657914.1:n.3528+110_3528+113del
ENST00000659195.1:n.3345_3348del
ENST00000661310.1:c.1170+110_1170+113del	ENSP00000499589.1:n.1170+110_1170+113del
ENST00000350721.8:c.1170+110_1170+113del	ENSP00000343741.4:n.1170+110_1170+113del
ENST00000507148.1:c.*106+110_*106+113del	ENSP00000426595.1:n.*106+110_*106+113del
ENST00000515149.2:c.213+110_213+113del	ENSP00000425897.2:n.213+110_213+113del
NM_001184.3:c.1170+110_1170+113del	NP_001175.2:n.1170+110_1170+113del
XM_011512924.1:c.1170+110_1170+113del	XP_011511226.1:n.1170+110_1170+113del
XM_011512925.1:c.1170+110_1170+113del	XP_011511227.1:n.1170+110_1170+113del
XM_011512926.1:c.1170+110_1170+113del	XP_011511228.1:n.1170+110_1170+113del
XM_011512927.1:c.1170+110_1170+113del	XP_011511229.1:n.1170+110_1170+113del
XR_924147.1:n.1259+110_1259+113del
XR_924148.1:n.1259+110_1259+113del
XR_924149.1:n.1259+110_1259+113del
NM_001354579.1:c.1170+110_1170+113del	NP_001341508.1:n.1170+110_1170+113del
XR_001740179.2:n.1259+110_1259+113del
XR_001740180.2:n.1259+110_1259+113del
XR_001740181.2:n.1259+110_1259+113del
XR_001740182.1:n.1259+110_1259+113del
XR_002959543.1:n.1259+110_1259+113del
XR_924148.2:n.1259+110_1259+113del
NM_001184.4:c.1170+110_1170+113del MANE Select	NP_001175.2:n.1170+110_1170+113del
NM_001354579.2:c.1170+110_1170+113del	NP_001341508.1:n.1170+110_1170+113del