Canonical Allele Identifier: CA546894069

Gene: ATR

Linked Data

• dbSNP Id: rs1482633988
• gnomAD v2: 3-142272047-CCAGA-C
• gnomAD v4: 3-142553205-CCAGA-C
• MyVariant Identifiers: chr3:g.142272048_142272051del (hg19) ; chr3:g.142553206_142553209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553208_142553211del , CM000665.2:g.142553208_142553211del	GRCh38
NC_000003.11:g.142272050_142272053del , CM000665.1:g.142272050_142272053del	GRCh37
NC_000003.10:g.143754740_143754743del	NCBI36
NG_008951.1:g.30618_30621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.2805+18_2805+21del MANE Select	ENSP00000343741.4:n.2805+18_2805+21del
ENST00000515149.3:c.*1579+18_*1579+21del	ENSP00000425897.3:n.*1579+18_*1579+21del
ENST00000653868.1:n.2834+18_2834+21del
ENST00000656582.1:n.64+18_64+21del
ENST00000656590.1:c.1595+18_1595+21del
ENST00000659195.1:n.5680+18_5680+21del
ENST00000661310.1:c.2613+18_2613+21del	ENSP00000499589.1:n.2613+18_2613+21del
ENST00000350721.8:c.2805+18_2805+21del	ENSP00000343741.4:n.2805+18_2805+21del
NM_001184.3:c.2805+18_2805+21del	NP_001175.2:n.2805+18_2805+21del
XM_011512924.1:c.2805+18_2805+21del	XP_011511226.1:n.2805+18_2805+21del
XM_011512925.1:c.2613+18_2613+21del	XP_011511227.1:n.2613+18_2613+21del
XM_011512926.1:c.2805+18_2805+21del	XP_011511228.1:n.2805+18_2805+21del
XM_011512927.1:c.2805+18_2805+21del	XP_011511229.1:n.2805+18_2805+21del
XR_924147.1:n.2894+18_2894+21del
XR_924148.1:n.2894+18_2894+21del
XR_924149.1:n.2894+18_2894+21del
NM_001354579.1:c.2613+18_2613+21del	NP_001341508.1:n.2613+18_2613+21del
XR_001740179.2:n.2894+18_2894+21del
XR_001740180.2:n.2894+18_2894+21del
XR_001740181.2:n.2894+18_2894+21del
XR_001740182.1:n.2894+18_2894+21del
XR_002959543.1:n.2894+18_2894+21del
XR_924148.2:n.2894+18_2894+21del
NM_001184.4:c.2805+18_2805+21del MANE Select	NP_001175.2:n.2805+18_2805+21del
NM_001354579.2:c.2613+18_2613+21del	NP_001341508.1:n.2613+18_2613+21del