Canonical Allele Identifier: CA6265179

Gene: ATM

Linked Data

• ClinVar Variation Id: 231928
• ClinVar RCV Id: RCV000213394 ; RCV000430951 ; RCV000988671 ; RCV001355758 ; RCV003477736 ; RCV004547547
• dbSNP Id: rs201222237
• ExAC: 11:108142137 G / A
• gnomAD v2: 11-108142137-G-A
• gnomAD v3: 11-108271410-G-A
• gnomAD v4: 11-108271410-G-A
• MyVariant Identifiers: chr11:g.108142137G>A (hg19) ; chr11:g.108271410G>A (hg38)
• PubMed: PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108271410G>A , CM000673.2:g.108271410G>A	GRCh38
NC_000011.9:g.108142137G>A , CM000673.1:g.108142137G>A	GRCh37
NC_000011.8:g.107647347G>A	NCBI36
NG_009830.1:g.53579G>A , LRG_135:g.53579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3077+4G>A	ENSP00000388058.2:n.3077+4G>A
ENST00000713593.1:c.*2548+4G>A	ENSP00000518889.1:n.*2548+4G>A
ENST00000278616.9:c.3077+4G>A	ENSP00000278616.4:n.3077+4G>A
ENST00000683174.1:n.3227+4G>A
ENST00000527805.6:c.3077+4G>A	ENSP00000435747.2:n.3077+4G>A
ENST00000675595.1:c.2912+4G>A	ENSP00000502563.1:n.2912+4G>A
ENST00000675843.1:c.3077+4G>A MANE Select	ENSP00000501606.1:n.3077+4G>A
ENST00000278616.8:c.3077+4G>A	ENSP00000278616.4:n.3077+4G>A
ENST00000452508.6:c.3077+4G>A	ENSP00000388058.2:n.3077+4G>A
ENST00000527805.5:c.3077+4G>A	ENSP00000435747.1:n.3077+4G>A
NM_000051.3:c.3077+4G>A , LRG_135t1:c.3077+4G>A	NP_000042.3:n.3077+4G>A
XM_005271561.3:c.3077+4G>A	XP_005271618.2:n.3077+4G>A
XM_005271562.3:c.3077+4G>A	XP_005271619.2:n.3077+4G>A
XM_006718843.2:c.3077+4G>A	XP_006718906.1:n.3077+4G>A
XM_011542840.1:c.3077+4G>A	XP_011541142.1:n.3077+4G>A
XM_011542841.1:c.3077+4G>A	XP_011541143.1:n.3077+4G>A
XM_011542842.1:c.2912+4G>A	XP_011541144.1:n.2912+4G>A
XM_011542843.1:c.3077+4G>A	XP_011541145.1:n.3077+4G>A
XM_011542844.1:c.2033+4G>A	XP_011541146.1:n.2033+4G>A
XM_011542845.1:c.1769+4G>A	XP_011541147.1:n.1769+4G>A
XM_011542846.1:c.3077+4G>A	XP_011541148.1:n.3077+4G>A
NM_001351834.1:c.3077+4G>A	NP_001338763.1:n.3077+4G>A
XM_005271562.5:c.3077+4G>A	XP_005271619.2:n.3077+4G>A
XM_006718843.4:c.3077+4G>A	XP_006718906.1:n.3077+4G>A
XM_011542840.3:c.3077+4G>A	XP_011541142.1:n.3077+4G>A
XM_011542842.3:c.2912+4G>A	XP_011541144.1:n.2912+4G>A
XM_011542843.2:c.3077+4G>A	XP_011541145.1:n.3077+4G>A
XM_011542844.3:c.2033+4G>A	XP_011541146.1:n.2033+4G>A
XM_011542845.2:c.1769+4G>A	XP_011541147.1:n.1769+4G>A
XM_017017789.2:c.3077+4G>A	XP_016873278.1:n.3077+4G>A
XM_017017790.2:c.3077+4G>A	XP_016873279.1:n.3077+4G>A
XM_017017791.1:c.3077+4G>A	XP_016873280.1:n.3077+4G>A
XM_017017792.2:c.3077+4G>A	XP_016873281.1:n.3077+4G>A
XR_002957150.1:n.3810+4G>A
NM_001351834.2:c.3077+4G>A	NP_001338763.1:n.3077+4G>A
NM_000051.4:c.3077+4G>A MANE Select	NP_000042.3:n.3077+4G>A