Canonical Allele Identifier: CA1407031474

Gene: ATR

Linked Data

• dbSNP Id: rs2034904234
• gnomAD v4: 3-142562145-TTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562148_142562150del , CM000665.2:g.142562148_142562150del	GRCh38
NC_000003.11:g.142280990_142280992del , CM000665.1:g.142280990_142280992del	GRCh37
NC_000003.10:g.143763680_143763682del	NCBI36
NG_008951.1:g.21679_21681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.1170+84_1170+86del MANE Select	ENSP00000343741.4:n.1170+84_1170+86del
ENST00000515149.3:c.293-727_293-725del	ENSP00000425897.3:n.293-727_293-725del
ENST00000653868.1:n.1199+84_1199+86del
ENST00000657914.1:n.3528+84_3528+86del
ENST00000659195.1:n.3319_3321del
ENST00000661310.1:c.1170+84_1170+86del	ENSP00000499589.1:n.1170+84_1170+86del
ENST00000350721.8:c.1170+84_1170+86del	ENSP00000343741.4:n.1170+84_1170+86del
ENST00000507148.1:c.*106+84_*106+86del	ENSP00000426595.1:n.*106+84_*106+86del
ENST00000515149.2:c.213+84_213+86del	ENSP00000425897.2:n.213+84_213+86del
NM_001184.3:c.1170+84_1170+86del	NP_001175.2:n.1170+84_1170+86del
XM_011512924.1:c.1170+84_1170+86del	XP_011511226.1:n.1170+84_1170+86del
XM_011512925.1:c.1170+84_1170+86del	XP_011511227.1:n.1170+84_1170+86del
XM_011512926.1:c.1170+84_1170+86del	XP_011511228.1:n.1170+84_1170+86del
XM_011512927.1:c.1170+84_1170+86del	XP_011511229.1:n.1170+84_1170+86del
XR_924147.1:n.1259+84_1259+86del
XR_924148.1:n.1259+84_1259+86del
XR_924149.1:n.1259+84_1259+86del
NM_001354579.1:c.1170+84_1170+86del	NP_001341508.1:n.1170+84_1170+86del
XR_001740179.2:n.1259+84_1259+86del
XR_001740180.2:n.1259+84_1259+86del
XR_001740181.2:n.1259+84_1259+86del
XR_001740182.1:n.1259+84_1259+86del
XR_002959543.1:n.1259+84_1259+86del
XR_924148.2:n.1259+84_1259+86del
NM_001184.4:c.1170+84_1170+86del MANE Select	NP_001175.2:n.1170+84_1170+86del
NM_001354579.2:c.1170+84_1170+86del	NP_001341508.1:n.1170+84_1170+86del