Canonical Allele Identifier: CA601696182

Gene: ATM

Linked Data

• ClinVar Variation Id: 524414
• ClinVar RCV Id: RCV000628186
• dbSNP Id: rs1459299108
• gnomAD v2: 11-108127018-T-TC
• gnomAD v4: 11-108256291-T-TC
• MyVariant Identifiers: chr11:g.108127018_108127019insC (hg19) ; chr11:g.108256291_108256292insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108256291_108256292insC , CM000673.2:g.108256291_108256292insC	GRCh38
NC_000011.9:g.108127018_108127019insC , CM000673.1:g.108127018_108127019insC	GRCh37
NC_000011.8:g.107632228_107632229insC	NCBI36
NG_009830.1:g.38460_38461insC , LRG_135:g.38460_38461insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2201_2202insC	ENSP00000388058.2:p.Ile735AsnfsTer3
ENST00000713593.1:c.*1672_*1673insC	ENSP00000518889.1:n.*1672_*1673insC
ENST00000278616.9:c.2201_2202insC	ENSP00000278616.4:p.Ile735AsnfsTer3
ENST00000682516.1:n.2335_2336insC
ENST00000683174.1:n.2351_2352insC
ENST00000683605.1:n.1696_1697insC
ENST00000684037.1:c.*1136_*1137insC	ENSP00000508245.1:n.*1136_*1137insC
ENST00000684061.1:n.2335_2336insC
ENST00000527805.6:c.2201_2202insC	ENSP00000435747.2:p.Ile735AsnfsTer3
ENST00000675595.1:c.2036_2037insC	ENSP00000502563.1:p.Ile680AsnfsTer3
ENST00000675843.1:c.2201_2202insC MANE Select	ENSP00000501606.1:p.Ile735AsnfsTer3
ENST00000278616.8:c.2201_2202insC	ENSP00000278616.4:p.Ile735AsnfsTer3
ENST00000452508.6:c.2201_2202insC	ENSP00000388058.2:p.Ile735AsnfsTer3
ENST00000527805.5:c.2201_2202insC	ENSP00000435747.1:p.Ile735AsnfsTer3
NM_000051.3:c.2201_2202insC , LRG_135t1:c.2201_2202insC	NP_000042.3:p.Ile735AsnfsTer3
XM_005271561.3:c.2201_2202insC	XP_005271618.2:p.Ile735AsnfsTer3
XM_005271562.3:c.2201_2202insC	XP_005271619.2:p.Ile735AsnfsTer3
XM_006718843.2:c.2201_2202insC	XP_006718906.1:p.Ile735AsnfsTer3
XM_011542840.1:c.2201_2202insC	XP_011541142.1:p.Ile735AsnfsTer3
XM_011542841.1:c.2201_2202insC	XP_011541143.1:p.Ile735AsnfsTer3
XM_011542842.1:c.2036_2037insC	XP_011541144.1:p.Ile680AsnfsTer3
XM_011542843.1:c.2201_2202insC	XP_011541145.1:p.Ile735AsnfsTer3
XM_011542844.1:c.1157_1158insC	XP_011541146.1:p.Ile387AsnfsTer3
XM_011542845.1:c.893_894insC	XP_011541147.1:p.Ile299AsnfsTer3
XM_011542846.1:c.2201_2202insC	XP_011541148.1:p.Ile735AsnfsTer3
NM_001351834.1:c.2201_2202insC	NP_001338763.1:p.Ile735AsnfsTer3
XM_005271562.5:c.2201_2202insC	XP_005271619.2:p.Ile735AsnfsTer3
XM_006718843.4:c.2201_2202insC	XP_006718906.1:p.Ile735AsnfsTer3
XM_011542840.3:c.2201_2202insC	XP_011541142.1:p.Ile735AsnfsTer3
XM_011542842.3:c.2036_2037insC	XP_011541144.1:p.Ile680AsnfsTer3
XM_011542843.2:c.2201_2202insC	XP_011541145.1:p.Ile735AsnfsTer3
XM_011542844.3:c.1157_1158insC	XP_011541146.1:p.Ile387AsnfsTer3
XM_011542845.2:c.893_894insC	XP_011541147.1:p.Ile299AsnfsTer3
XM_017017789.2:c.2201_2202insC	XP_016873278.1:p.Ile735AsnfsTer3
XM_017017790.2:c.2201_2202insC	XP_016873279.1:p.Ile735AsnfsTer3
XM_017017791.1:c.2201_2202insC	XP_016873280.1:p.Ile735AsnfsTer3
XM_017017792.2:c.2201_2202insC	XP_016873281.1:p.Ile735AsnfsTer3
XR_002957150.1:n.2934_2935insC
NM_001351834.2:c.2201_2202insC	NP_001338763.1:p.Ile735AsnfsTer3
NM_000051.4:c.2201_2202insC MANE Select	NP_000042.3:p.Ile735AsnfsTer3