Canonical Allele Identifier: CA2668042769

Gene: ATR

Linked Data

• gnomAD v4: 3-142562429-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562433_142562434del , CM000665.2:g.142562433_142562434del	GRCh38
NC_000003.11:g.142281275_142281276del , CM000665.1:g.142281275_142281276del	GRCh37
NC_000003.10:g.143763965_143763966del	NCBI36
NG_008951.1:g.21396_21397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.971_972del MANE Select	ENSP00000343741.4:p.Lys324ThrfsTer6
ENST00000515149.3:c.293-1010_293-1009del	ENSP00000425897.3:n.293-1010_293-1009del
ENST00000653868.1:n.1000_1001del
ENST00000657914.1:n.3329_3330del
ENST00000659195.1:n.3036_3037del
ENST00000661310.1:c.971_972del	ENSP00000499589.1:p.Lys324ThrfsTer6
ENST00000350721.8:c.971_972del	ENSP00000343741.4:p.Lys324ThrfsTer6
ENST00000507148.1:c.293-83_293-82del	ENSP00000426595.1:n.293-83_293-82del
ENST00000515149.2:c.14_15del	ENSP00000425897.2:p.Lys5ThrfsTer6
NM_001184.3:c.971_972del	NP_001175.2:p.Lys324ThrfsTer6
XM_011512924.1:c.971_972del	XP_011511226.1:p.Lys324ThrfsTer6
XM_011512925.1:c.971_972del	XP_011511227.1:p.Lys324ThrfsTer6
XM_011512926.1:c.971_972del	XP_011511228.1:p.Lys324ThrfsTer6
XM_011512927.1:c.971_972del	XP_011511229.1:p.Lys324ThrfsTer6
XR_924147.1:n.1060_1061del
XR_924148.1:n.1060_1061del
XR_924149.1:n.1060_1061del
NM_001354579.1:c.971_972del	NP_001341508.1:p.Lys324ThrfsTer6
XR_001740179.2:n.1060_1061del
XR_001740180.2:n.1060_1061del
XR_001740181.2:n.1060_1061del
XR_001740182.1:n.1060_1061del
XR_002959543.1:n.1060_1061del
XR_924148.2:n.1060_1061del
NM_001184.4:c.971_972del MANE Select	NP_001175.2:p.Lys324ThrfsTer6
NM_001354579.2:c.971_972del	NP_001341508.1:p.Lys324ThrfsTer6