Canonical Allele Identifier: CA2668018224

Gene: ATR

Linked Data

• gnomAD v4: 3-142553360-TGTAAGAGTGCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553361_142553372del , CM000665.2:g.142553361_142553372del	GRCh38
NC_000003.11:g.142272203_142272214del , CM000665.1:g.142272203_142272214del	GRCh37
NC_000003.10:g.143754893_143754904del	NCBI36
NG_008951.1:g.30455_30466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2660_2671del MANE Select	ENSP00000343741.4:p.Phe887_His891delinsTyr
ENST00000515149.3:c.*1434_*1445del	ENSP00000425897.3:n.*1434_*1445del
ENST00000653868.1:n.2689_2700del
ENST00000656590.1:c.1450_1461del
ENST00000659195.1:n.5535_5546del
ENST00000661310.1:c.2468_2479del	ENSP00000499589.1:p.Phe823_His827delinsTyr
ENST00000350721.8:c.2660_2671del	ENSP00000343741.4:p.Phe887_His891delinsTyr
NM_001184.3:c.2660_2671del	NP_001175.2:p.Phe887_His891delinsTyr
XM_011512924.1:c.2660_2671del	XP_011511226.1:p.Phe887_His891delinsTyr
XM_011512925.1:c.2468_2479del	XP_011511227.1:p.Phe823_His827delinsTyr
XM_011512926.1:c.2660_2671del	XP_011511228.1:p.Phe887_His891delinsTyr
XM_011512927.1:c.2660_2671del	XP_011511229.1:p.Phe887_His891delinsTyr
XR_924147.1:n.2749_2760del
XR_924148.1:n.2749_2760del
XR_924149.1:n.2749_2760del
NM_001354579.1:c.2468_2479del	NP_001341508.1:p.Phe823_His827delinsTyr
XR_001740179.2:n.2749_2760del
XR_001740180.2:n.2749_2760del
XR_001740181.2:n.2749_2760del
XR_001740182.1:n.2749_2760del
XR_002959543.1:n.2749_2760del
XR_924148.2:n.2749_2760del
NM_001184.4:c.2660_2671del MANE Select	NP_001175.2:p.Phe887_His891delinsTyr
NM_001354579.2:c.2468_2479del	NP_001341508.1:p.Phe823_His827delinsTyr