Canonical Allele Identifier: CA6265387

Gene: ATM

Linked Data

• dbSNP Id: rs766396546
• ExAC: 11:108158374 ATTG / A
• gnomAD v2: 11-108158374-ATTG-A
• gnomAD v4: 11-108287647-ATTG-A
• MyVariant Identifiers: chr11:g.108158375_108158377del (hg19) ; chr11:g.108287648_108287650del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287648_108287650del , CM000673.2:g.108287648_108287650del	GRCh38
NC_000011.9:g.108158375_108158377del , CM000673.1:g.108158375_108158377del	GRCh37
NC_000011.8:g.107663585_107663587del	NCBI36
NG_009830.1:g.69817_69819del , LRG_135:g.69817_69819del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4042_4044del	ENSP00000388058.2:p.Leu1348del
ENST00000713593.1:c.*3513_*3515del	ENSP00000518889.1:n.*3513_*3515del
ENST00000278616.9:c.4042_4044del	ENSP00000278616.4:p.Leu1348del
ENST00000533733.6:n.1305_1307del
ENST00000683174.1:n.4192_4194del
ENST00000527805.6:c.4042_4044del	ENSP00000435747.2:p.Leu1348del
ENST00000675595.1:c.3877_3879del	ENSP00000502563.1:p.Leu1293del
ENST00000675843.1:c.4042_4044del MANE Select	ENSP00000501606.1:p.Leu1348del
ENST00000278616.8:c.4042_4044del	ENSP00000278616.4:p.Leu1348del
ENST00000452508.6:c.4042_4044del	ENSP00000388058.2:p.Leu1348del
ENST00000524792.5:n.257_259del
ENST00000527805.5:c.4042_4044del	ENSP00000435747.1:p.Leu1348del
ENST00000531525.2:c.49_51del	ENSP00000434327.2:p.Leu17del
ENST00000533733.5:n.471_473del
NM_000051.3:c.4042_4044del , LRG_135t1:c.4042_4044del	NP_000042.3:p.Leu1348del
XM_005271561.3:c.4042_4044del	XP_005271618.2:p.Leu1348del
XM_005271562.3:c.4042_4044del	XP_005271619.2:p.Leu1348del
XM_006718843.2:c.4042_4044del	XP_006718906.1:p.Leu1348del
XM_006718845.1:c.-3_-1del	XP_006718908.1:n.-3_-1del
XM_011542840.1:c.4042_4044del	XP_011541142.1:p.Leu1348del
XM_011542841.1:c.4042_4044del	XP_011541143.1:p.Leu1348del
XM_011542842.1:c.3877_3879del	XP_011541144.1:p.Leu1293del
XM_011542843.1:c.4042_4044del	XP_011541145.1:p.Leu1348del
XM_011542844.1:c.2998_3000del	XP_011541146.1:p.Leu1000del
XM_011542845.1:c.2734_2736del	XP_011541147.1:p.Leu912del
XM_011542846.1:c.4042_4044del	XP_011541148.1:p.Leu1348del
NM_001351834.1:c.4042_4044del	NP_001338763.1:p.Leu1348del
XM_005271562.5:c.4042_4044del	XP_005271619.2:p.Leu1348del
XM_006718843.4:c.4042_4044del	XP_006718906.1:p.Leu1348del
XM_006718845.2:c.-3_-1del	XP_006718908.1:n.-3_-1del
XM_011542840.3:c.4042_4044del	XP_011541142.1:p.Leu1348del
XM_011542842.3:c.3877_3879del	XP_011541144.1:p.Leu1293del
XM_011542843.2:c.4042_4044del	XP_011541145.1:p.Leu1348del
XM_011542844.3:c.2998_3000del	XP_011541146.1:p.Leu1000del
XM_011542845.2:c.2734_2736del	XP_011541147.1:p.Leu912del
XM_017017789.2:c.4042_4044del	XP_016873278.1:p.Leu1348del
XM_017017790.2:c.4042_4044del	XP_016873279.1:p.Leu1348del
XM_017017791.1:c.4042_4044del	XP_016873280.1:p.Leu1348del
XM_017017792.2:c.4042_4044del	XP_016873281.1:p.Leu1348del
XR_002957150.1:n.4775_4777del
NM_001351834.2:c.4042_4044del	NP_001338763.1:p.Leu1348del
NM_000051.4:c.4042_4044del MANE Select	NP_000042.3:p.Leu1348del