Canonical Allele Identifier: CA2649324

Gene: ATR

Linked Data

• ClinVar Variation Id: 1596216
• ClinVar RCV Id: RCV002113223
• dbSNP Id: rs766548734
• ExAC: 3:142188172 C / CT
• gnomAD v2: 3-142188172-C-CT
• gnomAD v3: 3-142469330-C-CT
• gnomAD v4: 3-142469330-C-CT
• MyVariant Identifiers: chr3:g.142188172_142188173insT (hg19) ; chr3:g.142469330_142469331insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142469334dup , CM000665.2:g.142469334dup	GRCh38
NC_000003.11:g.142188176dup , CM000665.1:g.142188176dup	GRCh37
NC_000003.10:g.143670866dup	NCBI36
NG_008951.1:g.114496dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6552+6dup MANE Select	ENSP00000343741.4:n.6552+6dup
ENST00000513291.2:n.1736+6dup
ENST00000654170.1:n.1395+6dup
ENST00000656590.1:c.5342+6dup
ENST00000661310.1:c.6360+6dup	ENSP00000499589.1:n.6360+6dup
ENST00000665483.1:n.407+6dup
ENST00000666447.1:n.393dup
ENST00000666943.1:n.2022dup
ENST00000350721.8:c.6552+6dup	ENSP00000343741.4:n.6552+6dup
ENST00000513291.1:c.91+6dup
NM_001184.3:c.6552+6dup	NP_001175.2:n.6552+6dup
XM_011512924.1:c.6558+6dup	XP_011511226.1:n.6558+6dup
XM_011512925.1:c.6366+6dup	XP_011511227.1:n.6366+6dup
XR_924147.1:n.6647+6dup
XR_924148.1:n.6647+6dup
XR_924149.1:n.6526+6dup
NM_001354579.1:c.6360+6dup	NP_001341508.1:n.6360+6dup
XR_001740179.2:n.6641+6dup
XR_924148.2:n.6647+6dup
NM_001184.4:c.6552+6dup MANE Select	NP_001175.2:n.6552+6dup
NM_001354579.2:c.6360+6dup	NP_001341508.1:n.6360+6dup