Canonical Allele Identifier: CA2668042774

Gene: ATR

Linked Data

• gnomAD v4: 3-142562848-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562849del , CM000665.2:g.142562849del	GRCh38
NC_000003.11:g.142281691del , CM000665.1:g.142281691del	GRCh37
NC_000003.10:g.143764381del	NCBI36
NG_008951.1:g.20978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.553del MANE Select	ENSP00000343741.4:p.His185ThrfsTer12
ENST00000515149.3:c.293-1428del	ENSP00000425897.3:n.293-1428del
ENST00000653868.1:n.582del
ENST00000657914.1:n.2911del
ENST00000659195.1:n.2618del
ENST00000661310.1:c.553del	ENSP00000499589.1:p.His185ThrfsTer12
ENST00000350721.8:c.553del	ENSP00000343741.4:p.His185ThrfsTer12
ENST00000507148.1:c.293-501del	ENSP00000426595.1:n.293-501del
NM_001184.3:c.553del	NP_001175.2:p.His185ThrfsTer12
XM_011512924.1:c.553del	XP_011511226.1:p.His185ThrfsTer12
XM_011512925.1:c.553del	XP_011511227.1:p.His185ThrfsTer12
XM_011512926.1:c.553del	XP_011511228.1:p.His185ThrfsTer12
XM_011512927.1:c.553del	XP_011511229.1:p.His185ThrfsTer12
XR_924147.1:n.642del
XR_924148.1:n.642del
XR_924149.1:n.642del
NM_001354579.1:c.553del	NP_001341508.1:p.His185ThrfsTer12
XR_001740179.2:n.642del
XR_001740180.2:n.642del
XR_001740181.2:n.642del
XR_001740182.1:n.642del
XR_002959543.1:n.642del
XR_924148.2:n.642del
NM_001184.4:c.553del MANE Select	NP_001175.2:p.His185ThrfsTer12
NM_001354579.2:c.553del	NP_001341508.1:p.His185ThrfsTer12