Canonical Allele Identifier: CA10579134

Gene: ATM

Linked Data

• ClinVar Variation Id: 229880
• ClinVar RCV Id: RCV000221878 ; RCV000229319 ; RCV001268237 ; RCV003483575
• dbSNP Id: rs876658248
• gnomAD v4: 11-108287701-CTG-C
• MyVariant Identifiers: chr11:g.108158431_108158432del (hg19) ; chr11:g.108287704_108287705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287704_108287705del , CM000673.2:g.108287704_108287705del	GRCh38
NC_000011.9:g.108158431_108158432del , CM000673.1:g.108158431_108158432del	GRCh37
NC_000011.8:g.107663641_107663642del	NCBI36
NG_009830.1:g.69873_69874del , LRG_135:g.69873_69874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4098_4099del	ENSP00000388058.2:p.Cys1366Ter
ENST00000713593.1:c.*3569_*3570del	ENSP00000518889.1:n.*3569_*3570del
ENST00000278616.9:c.4098_4099del	ENSP00000278616.4:p.Cys1366Ter
ENST00000533733.6:n.1361_1362del
ENST00000683174.1:n.4248_4249del
ENST00000527805.6:c.4098_4099del	ENSP00000435747.2:p.Cys1366Ter
ENST00000675595.1:c.3933_3934del	ENSP00000502563.1:p.Cys1311Ter
ENST00000675843.1:c.4098_4099del MANE Select	ENSP00000501606.1:p.Cys1366Ter
ENST00000278616.8:c.4098_4099del	ENSP00000278616.4:p.Cys1366Ter
ENST00000452508.6:c.4098_4099del	ENSP00000388058.2:p.Cys1366Ter
ENST00000524792.5:n.313_314del
ENST00000527805.5:c.4098_4099del	ENSP00000435747.1:p.Cys1366Ter
ENST00000531525.2:c.105_106del	ENSP00000434327.2:p.Cys35Ter
ENST00000533733.5:n.527_528del
NM_000051.3:c.4098_4099del , LRG_135t1:c.4098_4099del	NP_000042.3:p.Cys1366Ter
XM_005271561.3:c.4098_4099del	XP_005271618.2:p.Cys1366Ter
XM_005271562.3:c.4098_4099del	XP_005271619.2:p.Cys1366Ter
XM_006718843.2:c.4098_4099del	XP_006718906.1:p.Cys1366Ter
XM_006718845.1:c.54_55del	XP_006718908.1:p.Cys18Ter
XM_011542840.1:c.4098_4099del	XP_011541142.1:p.Cys1366Ter
XM_011542841.1:c.4098_4099del	XP_011541143.1:p.Cys1366Ter
XM_011542842.1:c.3933_3934del	XP_011541144.1:p.Cys1311Ter
XM_011542843.1:c.4098_4099del	XP_011541145.1:p.Cys1366Ter
XM_011542844.1:c.3054_3055del	XP_011541146.1:p.Cys1018Ter
XM_011542845.1:c.2790_2791del	XP_011541147.1:p.Cys930Ter
XM_011542846.1:c.4098_4099del	XP_011541148.1:p.Cys1366Ter
NM_001351834.1:c.4098_4099del	NP_001338763.1:p.Cys1366Ter
XM_005271562.5:c.4098_4099del	XP_005271619.2:p.Cys1366Ter
XM_006718843.4:c.4098_4099del	XP_006718906.1:p.Cys1366Ter
XM_006718845.2:c.54_55del	XP_006718908.1:p.Cys18Ter
XM_011542840.3:c.4098_4099del	XP_011541142.1:p.Cys1366Ter
XM_011542842.3:c.3933_3934del	XP_011541144.1:p.Cys1311Ter
XM_011542843.2:c.4098_4099del	XP_011541145.1:p.Cys1366Ter
XM_011542844.3:c.3054_3055del	XP_011541146.1:p.Cys1018Ter
XM_011542845.2:c.2790_2791del	XP_011541147.1:p.Cys930Ter
XM_017017789.2:c.4098_4099del	XP_016873278.1:p.Cys1366Ter
XM_017017790.2:c.4098_4099del	XP_016873279.1:p.Cys1366Ter
XM_017017791.1:c.4098_4099del	XP_016873280.1:p.Cys1366Ter
XM_017017792.2:c.4098_4099del	XP_016873281.1:p.Cys1366Ter
XR_002957150.1:n.4831_4832del
NM_001351834.2:c.4098_4099del	NP_001338763.1:p.Cys1366Ter
NM_000051.4:c.4098_4099del MANE Select	NP_000042.3:p.Cys1366Ter