Canonical Allele Identifier: CA2668042779

Gene: ATR

Linked Data

• gnomAD v4: 3-142563014-A-ACTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142563014_142563015insCTG , CM000665.2:g.142563014_142563015insCTG	GRCh38
NC_000003.11:g.142281856_142281857insCTG , CM000665.1:g.142281856_142281857insCTG	GRCh37
NC_000003.10:g.143764546_143764547insCTG	NCBI36
NG_008951.1:g.20812_20813insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.387_388insCAG MANE Select	ENSP00000343741.4:p.Ser129_Leu130insGln
ENST00000515149.3:c.293-1594_293-1593insCAG	ENSP00000425897.3:n.293-1594_293-1593insCAG
ENST00000653868.1:n.416_417insCAG
ENST00000657914.1:n.2745_2746insCAG
ENST00000659195.1:n.2452_2453insCAG
ENST00000661310.1:c.387_388insCAG	ENSP00000499589.1:p.Ser129_Leu130insGln
ENST00000350721.8:c.387_388insCAG	ENSP00000343741.4:p.Ser129_Leu130insGln
ENST00000507148.1:c.293-667_293-666insCAG	ENSP00000426595.1:n.293-667_293-666insCAG
NM_001184.3:c.387_388insCAG	NP_001175.2:p.Ser129_Leu130insGln
XM_011512924.1:c.387_388insCAG	XP_011511226.1:p.Ser129_Leu130insGln
XM_011512925.1:c.387_388insCAG	XP_011511227.1:p.Ser129_Leu130insGln
XM_011512926.1:c.387_388insCAG	XP_011511228.1:p.Ser129_Leu130insGln
XM_011512927.1:c.387_388insCAG	XP_011511229.1:p.Ser129_Leu130insGln
XR_924147.1:n.476_477insCAG
XR_924148.1:n.476_477insCAG
XR_924149.1:n.476_477insCAG
NM_001354579.1:c.387_388insCAG	NP_001341508.1:p.Ser129_Leu130insGln
XR_001740179.2:n.476_477insCAG
XR_001740180.2:n.476_477insCAG
XR_001740181.2:n.476_477insCAG
XR_001740182.1:n.476_477insCAG
XR_002959543.1:n.476_477insCAG
XR_924148.2:n.476_477insCAG
NM_001184.4:c.387_388insCAG MANE Select	NP_001175.2:p.Ser129_Leu130insGln
NM_001354579.2:c.387_388insCAG	NP_001341508.1:p.Ser129_Leu130insGln