Canonical Allele Identifier: CA2573136624

Gene: ATR

Linked Data

• ClinVar Variation Id: 1478229
• ClinVar RCV Id: RCV002018951

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562769_142562770delinsTG , CM000665.2:g.142562769_142562770delinsTG	GRCh38
NC_000003.11:g.142281611_142281612delinsTG , CM000665.1:g.142281611_142281612delinsTG	GRCh37
NC_000003.10:g.143764301_143764302delinsTG	NCBI36
NG_008951.1:g.21057_21058delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.632_633delinsCA MANE Select	ENSP00000343741.4:p.Met211Thr
ENST00000515149.3:c.293-1349_293-1348delinsCA	ENSP00000425897.3:n.293-1349_293-1348delinsCA
ENST00000653868.1:n.661_662delinsCA
ENST00000657914.1:n.2990_2991delinsCA
ENST00000659195.1:n.2697_2698delinsCA
ENST00000661310.1:c.632_633delinsCA	ENSP00000499589.1:p.Met211Thr
ENST00000350721.8:c.632_633delinsCA	ENSP00000343741.4:p.Met211Thr
ENST00000507148.1:c.293-422_293-421delinsCA	ENSP00000426595.1:n.293-422_293-421delinsCA
NM_001184.3:c.632_633delinsCA	NP_001175.2:p.Met211Thr
XM_011512924.1:c.632_633delinsCA	XP_011511226.1:p.Met211Thr
XM_011512925.1:c.632_633delinsCA	XP_011511227.1:p.Met211Thr
XM_011512926.1:c.632_633delinsCA	XP_011511228.1:p.Met211Thr
XM_011512927.1:c.632_633delinsCA	XP_011511229.1:p.Met211Thr
XR_924147.1:n.721_722delinsCA
XR_924148.1:n.721_722delinsCA
XR_924149.1:n.721_722delinsCA
NM_001354579.1:c.632_633delinsCA	NP_001341508.1:p.Met211Thr
XR_001740179.2:n.721_722delinsCA
XR_001740180.2:n.721_722delinsCA
XR_001740181.2:n.721_722delinsCA
XR_001740182.1:n.721_722delinsCA
XR_002959543.1:n.721_722delinsCA
XR_924148.2:n.721_722delinsCA
NM_001184.4:c.632_633delinsCA MANE Select	NP_001175.2:p.Met211Thr
NM_001354579.2:c.632_633delinsCA	NP_001341508.1:p.Met211Thr