Canonical Allele Identifier: CA2668042770

Gene: ATR

Linked Data

• gnomAD v4: 3-142562498-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562499dup , CM000665.2:g.142562499dup	GRCh38
NC_000003.11:g.142281341dup , CM000665.1:g.142281341dup	GRCh37
NC_000003.10:g.143764031dup	NCBI36
NG_008951.1:g.21328dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.903dup MANE Select	ENSP00000343741.4:p.Leu302ThrfsTer5
ENST00000515149.3:c.293-1078dup	ENSP00000425897.3:n.293-1078dup
ENST00000653868.1:n.932dup
ENST00000657914.1:n.3261dup
ENST00000659195.1:n.2968dup
ENST00000661310.1:c.903dup	ENSP00000499589.1:p.Leu302ThrfsTer5
ENST00000350721.8:c.903dup	ENSP00000343741.4:p.Leu302ThrfsTer5
ENST00000507148.1:c.293-151dup	ENSP00000426595.1:n.293-151dup
NM_001184.3:c.903dup	NP_001175.2:p.Leu302ThrfsTer5
XM_011512924.1:c.903dup	XP_011511226.1:p.Leu302ThrfsTer5
XM_011512925.1:c.903dup	XP_011511227.1:p.Leu302ThrfsTer5
XM_011512926.1:c.903dup	XP_011511228.1:p.Leu302ThrfsTer5
XM_011512927.1:c.903dup	XP_011511229.1:p.Leu302ThrfsTer5
XR_924147.1:n.992dup
XR_924148.1:n.992dup
XR_924149.1:n.992dup
NM_001354579.1:c.903dup	NP_001341508.1:p.Leu302ThrfsTer5
XR_001740179.2:n.992dup
XR_001740180.2:n.992dup
XR_001740181.2:n.992dup
XR_001740182.1:n.992dup
XR_002959543.1:n.992dup
XR_924148.2:n.992dup
NM_001184.4:c.903dup MANE Select	NP_001175.2:p.Leu302ThrfsTer5
NM_001354579.2:c.903dup	NP_001341508.1:p.Leu302ThrfsTer5