Canonical Allele Identifier: CA10579142

Gene: ATM

Linked Data

• ClinVar Variation Id: 232566
• ClinVar RCV Id: RCV000214940 ; RCV000460565
• dbSNP Id: rs876659842
• gnomAD v4: 11-108289617-ATTC-A
• MyVariant Identifiers: chr11:g.108160350_108160352del (hg19) ; chr11:g.108289623_108289625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289623_108289625del , CM000673.2:g.108289623_108289625del	GRCh38
NC_000011.9:g.108160350_108160352del , CM000673.1:g.108160350_108160352del	GRCh37
NC_000011.8:g.107665560_107665562del	NCBI36
NG_009830.1:g.71792_71794del , LRG_135:g.71792_71794del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4258_4260del	ENSP00000388058.2:p.Leu1420del
ENST00000713593.1:c.*3729_*3731del	ENSP00000518889.1:n.*3729_*3731del
ENST00000278616.9:c.4258_4260del	ENSP00000278616.4:p.Leu1420del
ENST00000533733.6:n.1521_1523del
ENST00000683174.1:n.4408_4410del
ENST00000527805.6:c.4258_4260del	ENSP00000435747.2:p.Leu1420del
ENST00000675595.1:c.4093_4095del	ENSP00000502563.1:p.Leu1365del
ENST00000675843.1:c.4258_4260del MANE Select	ENSP00000501606.1:p.Leu1420del
ENST00000278616.8:c.4258_4260del	ENSP00000278616.4:p.Leu1420del
ENST00000452508.6:c.4258_4260del	ENSP00000388058.2:p.Leu1420del
ENST00000524792.5:n.473_475del
ENST00000531525.2:c.265_267del	ENSP00000434327.2:p.Leu89del
ENST00000533733.5:n.687_689del
NM_000051.3:c.4258_4260del , LRG_135t1:c.4258_4260del	NP_000042.3:p.Leu1420del
XM_005271561.3:c.4258_4260del	XP_005271618.2:p.Leu1420del
XM_005271562.3:c.4258_4260del	XP_005271619.2:p.Leu1420del
XM_006718843.2:c.4258_4260del	XP_006718906.1:p.Leu1420del
XM_006718845.1:c.214_216del	XP_006718908.1:p.Leu72del
XM_011542840.1:c.4258_4260del	XP_011541142.1:p.Leu1420del
XM_011542841.1:c.4258_4260del	XP_011541143.1:p.Leu1420del
XM_011542842.1:c.4093_4095del	XP_011541144.1:p.Leu1365del
XM_011542843.1:c.4258_4260del	XP_011541145.1:p.Leu1420del
XM_011542844.1:c.3214_3216del	XP_011541146.1:p.Leu1072del
XM_011542845.1:c.2950_2952del	XP_011541147.1:p.Leu984del
XM_011542846.1:c.4258_4260del	XP_011541148.1:p.Leu1420del
NM_001351834.1:c.4258_4260del	NP_001338763.1:p.Leu1420del
XM_005271562.5:c.4258_4260del	XP_005271619.2:p.Leu1420del
XM_006718843.4:c.4258_4260del	XP_006718906.1:p.Leu1420del
XM_006718845.2:c.214_216del	XP_006718908.1:p.Leu72del
XM_011542840.3:c.4258_4260del	XP_011541142.1:p.Leu1420del
XM_011542842.3:c.4093_4095del	XP_011541144.1:p.Leu1365del
XM_011542843.2:c.4258_4260del	XP_011541145.1:p.Leu1420del
XM_011542844.3:c.3214_3216del	XP_011541146.1:p.Leu1072del
XM_011542845.2:c.2950_2952del	XP_011541147.1:p.Leu984del
XM_017017789.2:c.4258_4260del	XP_016873278.1:p.Leu1420del
XM_017017790.2:c.4258_4260del	XP_016873279.1:p.Leu1420del
XM_017017791.1:c.4258_4260del	XP_016873280.1:p.Leu1420del
XM_017017792.2:c.4258_4260del	XP_016873281.1:p.Leu1420del
XR_002957150.1:n.4991_4993del
NM_001351834.2:c.4258_4260del	NP_001338763.1:p.Leu1420del
NM_000051.4:c.4258_4260del MANE Select	NP_000042.3:p.Leu1420del