Canonical Allele Identifier: CA2650792

Gene: ATR

Linked Data

• dbSNP Id: rs758501300
• ExAC: 3:142281971 GAT / G
• gnomAD v2: 3-142281971-GAT-G
• gnomAD v4: 3-142563129-GAT-G
• MyVariant Identifiers: chr3:g.142281972_142281973del (hg19) ; chr3:g.142563130_142563131del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142563132_142563133del , CM000665.2:g.142563132_142563133del	GRCh38
NC_000003.11:g.142281974_142281975del , CM000665.1:g.142281974_142281975del	GRCh37
NC_000003.10:g.143764664_143764665del	NCBI36
NG_008951.1:g.20696_20697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.293-22_293-21del MANE Select	ENSP00000343741.4:n.293-22_293-21del
ENST00000515149.3:c.293-1710_293-1709del	ENSP00000425897.3:n.293-1710_293-1709del
ENST00000653868.1:n.322-22_322-21del
ENST00000657914.1:n.2629_2630del
ENST00000659195.1:n.2336_2337del
ENST00000661310.1:c.293-22_293-21del	ENSP00000499589.1:n.293-22_293-21del
ENST00000350721.8:c.293-22_293-21del	ENSP00000343741.4:n.293-22_293-21del
ENST00000507148.1:c.293-783_293-782del	ENSP00000426595.1:n.293-783_293-782del
NM_001184.3:c.293-22_293-21del	NP_001175.2:n.293-22_293-21del
XM_011512924.1:c.293-22_293-21del	XP_011511226.1:n.293-22_293-21del
XM_011512925.1:c.293-22_293-21del	XP_011511227.1:n.293-22_293-21del
XM_011512926.1:c.293-22_293-21del	XP_011511228.1:n.293-22_293-21del
XM_011512927.1:c.293-22_293-21del	XP_011511229.1:n.293-22_293-21del
XR_924147.1:n.382-22_382-21del
XR_924148.1:n.382-22_382-21del
XR_924149.1:n.382-22_382-21del
NM_001354579.1:c.293-22_293-21del	NP_001341508.1:n.293-22_293-21del
XR_001740179.2:n.382-22_382-21del
XR_001740180.2:n.382-22_382-21del
XR_001740181.2:n.382-22_382-21del
XR_001740182.1:n.382-22_382-21del
XR_002959543.1:n.382-22_382-21del
XR_924148.2:n.382-22_382-21del
NM_001184.4:c.293-22_293-21del MANE Select	NP_001175.2:n.293-22_293-21del
NM_001354579.2:c.293-22_293-21del	NP_001341508.1:n.293-22_293-21del