Canonical Allele Identifier: CA1407031533

Gene: ATR

Linked Data

• ClinVar Variation Id: 1041178
• ClinVar RCV Id: RCV001344941 ; RCV002547437
• dbSNP Id: rs2034909355

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562228_142562231del , CM000665.2:g.142562228_142562231del	GRCh38
NC_000003.11:g.142281070_142281073del , CM000665.1:g.142281070_142281073del	GRCh37
NC_000003.10:g.143763760_143763763del	NCBI36
NG_008951.1:g.21600_21603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.1170+5_1170+8del MANE Select	ENSP00000343741.4:n.1170+5_1170+8del
ENST00000515149.3:c.293-806_293-803del	ENSP00000425897.3:n.293-806_293-803del
ENST00000653868.1:n.1199+5_1199+8del
ENST00000657914.1:n.3528+5_3528+8del
ENST00000659195.1:n.3240_3243del
ENST00000661310.1:c.1170+5_1170+8del	ENSP00000499589.1:n.1170+5_1170+8del
ENST00000350721.8:c.1170+5_1170+8del	ENSP00000343741.4:n.1170+5_1170+8del
ENST00000507148.1:c.*106+5_*106+8del	ENSP00000426595.1:n.*106+5_*106+8del
ENST00000515149.2:c.213+5_213+8del	ENSP00000425897.2:n.213+5_213+8del
NM_001184.3:c.1170+5_1170+8del	NP_001175.2:n.1170+5_1170+8del
XM_011512924.1:c.1170+5_1170+8del	XP_011511226.1:n.1170+5_1170+8del
XM_011512925.1:c.1170+5_1170+8del	XP_011511227.1:n.1170+5_1170+8del
XM_011512926.1:c.1170+5_1170+8del	XP_011511228.1:n.1170+5_1170+8del
XM_011512927.1:c.1170+5_1170+8del	XP_011511229.1:n.1170+5_1170+8del
XR_924147.1:n.1259+5_1259+8del
XR_924148.1:n.1259+5_1259+8del
XR_924149.1:n.1259+5_1259+8del
NM_001354579.1:c.1170+5_1170+8del	NP_001341508.1:n.1170+5_1170+8del
XR_001740179.2:n.1259+5_1259+8del
XR_001740180.2:n.1259+5_1259+8del
XR_001740181.2:n.1259+5_1259+8del
XR_001740182.1:n.1259+5_1259+8del
XR_002959543.1:n.1259+5_1259+8del
XR_924148.2:n.1259+5_1259+8del
NM_001184.4:c.1170+5_1170+8del MANE Select	NP_001175.2:n.1170+5_1170+8del
NM_001354579.2:c.1170+5_1170+8del	NP_001341508.1:n.1170+5_1170+8del