Canonical Allele Identifier: CA602132785

Gene: ATM

Linked Data

• dbSNP Id: rs1193876988
• gnomAD v2: 11-108173541-ACTTCT-A
• MyVariant Identifiers: chr11:g.108173542_108173546del (hg19) ; chr11:g.108302815_108302819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302818_108302822del , CM000673.2:g.108302818_108302822del	GRCh38
NC_000011.9:g.108173545_108173549del , CM000673.1:g.108173545_108173549del	GRCh37
NC_000011.8:g.107678755_107678759del	NCBI36
NG_009830.1:g.84987_84991del , LRG_135:g.84987_84991del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5320-35_5320-31del	ENSP00000388058.2:n.5320-35_5320-31del
ENST00000713593.1:c.*4791-35_*4791-31del	ENSP00000518889.1:n.*4791-35_*4791-31del
ENST00000278616.9:c.5320-35_5320-31del	ENSP00000278616.4:n.5320-35_5320-31del
ENST00000683174.1:n.6804-35_6804-31del
ENST00000683524.1:n.544-35_544-31del
ENST00000684152.1:n.1034-35_1034-31del
ENST00000527805.6:c.*384-35_*384-31del	ENSP00000435747.2:n.*384-35_*384-31del
ENST00000675595.1:c.*384-35_*384-31del	ENSP00000502563.1:n.*384-35_*384-31del
ENST00000675843.1:c.5320-35_5320-31del MANE Select	ENSP00000501606.1:n.5320-35_5320-31del
ENST00000278616.8:c.5320-35_5320-31del	ENSP00000278616.4:n.5320-35_5320-31del
ENST00000452508.6:c.5320-35_5320-31del	ENSP00000388058.2:n.5320-35_5320-31del
ENST00000524792.5:n.1535-35_1535-31del
ENST00000533690.5:n.724-35_724-31del
ENST00000534625.1:n.549-35_549-31del
NM_000051.3:c.5320-35_5320-31del , LRG_135t1:c.5320-35_5320-31del	NP_000042.3:n.5320-35_5320-31del
XM_005271561.3:c.5320-35_5320-31del	XP_005271618.2:n.5320-35_5320-31del
XM_005271562.3:c.5320-35_5320-31del	XP_005271619.2:n.5320-35_5320-31del
XM_006718843.2:c.5320-35_5320-31del	XP_006718906.1:n.5320-35_5320-31del
XM_006718845.1:c.1276-35_1276-31del	XP_006718908.1:n.1276-35_1276-31del
XM_011542840.1:c.5320-35_5320-31del	XP_011541142.1:n.5320-35_5320-31del
XM_011542841.1:c.5320-35_5320-31del	XP_011541143.1:n.5320-35_5320-31del
XM_011542842.1:c.5155-35_5155-31del	XP_011541144.1:n.5155-35_5155-31del
XM_011542843.1:c.5320-35_5320-31del	XP_011541145.1:n.5320-35_5320-31del
XM_011542844.1:c.4276-35_4276-31del	XP_011541146.1:n.4276-35_4276-31del
XM_011542845.1:c.4012-35_4012-31del	XP_011541147.1:n.4012-35_4012-31del
XM_011542846.1:c.5319-33_5319-29del	XP_011541148.1:n.5319-33_5319-29del
XM_011542847.1:c.391-35_391-31del	XP_011541149.1:n.391-35_391-31del
NM_001351834.1:c.5320-35_5320-31del	NP_001338763.1:n.5320-35_5320-31del
XM_005271562.5:c.5320-35_5320-31del	XP_005271619.2:n.5320-35_5320-31del
XM_006718843.4:c.5320-35_5320-31del	XP_006718906.1:n.5320-35_5320-31del
XM_006718845.2:c.1276-35_1276-31del	XP_006718908.1:n.1276-35_1276-31del
XM_011542840.3:c.5320-35_5320-31del	XP_011541142.1:n.5320-35_5320-31del
XM_011542842.3:c.5155-35_5155-31del	XP_011541144.1:n.5155-35_5155-31del
XM_011542843.2:c.5320-35_5320-31del	XP_011541145.1:n.5320-35_5320-31del
XM_011542844.3:c.4276-35_4276-31del	XP_011541146.1:n.4276-35_4276-31del
XM_011542845.2:c.4012-35_4012-31del	XP_011541147.1:n.4012-35_4012-31del
XM_017017789.2:c.5320-35_5320-31del	XP_016873278.1:n.5320-35_5320-31del
XM_017017790.2:c.5320-35_5320-31del	XP_016873279.1:n.5320-35_5320-31del
XM_017017791.1:c.5320-35_5320-31del	XP_016873280.1:n.5320-35_5320-31del
XM_017017792.2:c.*1-35_*1-31del	XP_016873281.1:n.*1-35_*1-31del
XR_002957150.1:n.5920-35_5920-31del
NM_001351834.2:c.5320-35_5320-31del	NP_001338763.1:n.5320-35_5320-31del
NM_000051.4:c.5320-35_5320-31del MANE Select	NP_000042.3:n.5320-35_5320-31del