Canonical Allele Identifier: CA6265088

Gene: ATM

Linked Data

• dbSNP Id: rs760452869
• ExAC: 11:108139106 CTT / C
• gnomAD v2: 11-108139106-CTT-C
• gnomAD v4: 11-108268379-CTT-C
• MyVariant Identifiers: chr11:g.108139107_108139108del (hg19) ; chr11:g.108139107_108139112delinsAGTG (hg19) ; chr11:g.108268380_108268381del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268380_108268381del , CM000673.2:g.108268380_108268381del	GRCh38
NC_000011.9:g.108139107_108139108del , CM000673.1:g.108139107_108139108del	GRCh37
NC_000011.8:g.107644317_107644318del	NCBI36
NG_009830.1:g.50549_50550del , LRG_135:g.50549_50550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2639-30_2639-29del	ENSP00000388058.2:n.2639-30_2639-29del
ENST00000713593.1:c.*2110-30_*2110-29del	ENSP00000518889.1:n.*2110-30_*2110-29del
ENST00000278616.9:c.2639-30_2639-29del	ENSP00000278616.4:n.2639-30_2639-29del
ENST00000682516.1:n.2772+1038_2772+1039del
ENST00000683174.1:n.2789-30_2789-29del
ENST00000684037.1:c.*1573+1038_*1573+1039del	ENSP00000508245.1:n.*1573+1038_*1573+1039del
ENST00000527805.6:c.2639-30_2639-29del	ENSP00000435747.2:n.2639-30_2639-29del
ENST00000675595.1:c.2474-30_2474-29del	ENSP00000502563.1:n.2474-30_2474-29del
ENST00000675843.1:c.2639-30_2639-29del MANE Select	ENSP00000501606.1:n.2639-30_2639-29del
ENST00000278616.8:c.2639-30_2639-29del	ENSP00000278616.4:n.2639-30_2639-29del
ENST00000452508.6:c.2639-30_2639-29del	ENSP00000388058.2:n.2639-30_2639-29del
ENST00000527805.5:c.2639-30_2639-29del	ENSP00000435747.1:n.2639-30_2639-29del
NM_000051.3:c.2639-30_2639-29del , LRG_135t1:c.2639-30_2639-29del	NP_000042.3:n.2639-30_2639-29del
XM_005271561.3:c.2639-30_2639-29del	XP_005271618.2:n.2639-30_2639-29del
XM_005271562.3:c.2639-30_2639-29del	XP_005271619.2:n.2639-30_2639-29del
XM_006718843.2:c.2639-30_2639-29del	XP_006718906.1:n.2639-30_2639-29del
XM_011542840.1:c.2639-30_2639-29del	XP_011541142.1:n.2639-30_2639-29del
XM_011542841.1:c.2639-30_2639-29del	XP_011541143.1:n.2639-30_2639-29del
XM_011542842.1:c.2474-30_2474-29del	XP_011541144.1:n.2474-30_2474-29del
XM_011542843.1:c.2639-30_2639-29del	XP_011541145.1:n.2639-30_2639-29del
XM_011542844.1:c.1595-30_1595-29del	XP_011541146.1:n.1595-30_1595-29del
XM_011542845.1:c.1331-30_1331-29del	XP_011541147.1:n.1331-30_1331-29del
XM_011542846.1:c.2639-30_2639-29del	XP_011541148.1:n.2639-30_2639-29del
NM_001351834.1:c.2639-30_2639-29del	NP_001338763.1:n.2639-30_2639-29del
XM_005271562.5:c.2639-30_2639-29del	XP_005271619.2:n.2639-30_2639-29del
XM_006718843.4:c.2639-30_2639-29del	XP_006718906.1:n.2639-30_2639-29del
XM_011542840.3:c.2639-30_2639-29del	XP_011541142.1:n.2639-30_2639-29del
XM_011542842.3:c.2474-30_2474-29del	XP_011541144.1:n.2474-30_2474-29del
XM_011542843.2:c.2639-30_2639-29del	XP_011541145.1:n.2639-30_2639-29del
XM_011542844.3:c.1595-30_1595-29del	XP_011541146.1:n.1595-30_1595-29del
XM_011542845.2:c.1331-30_1331-29del	XP_011541147.1:n.1331-30_1331-29del
XM_017017789.2:c.2639-30_2639-29del	XP_016873278.1:n.2639-30_2639-29del
XM_017017790.2:c.2639-30_2639-29del	XP_016873279.1:n.2639-30_2639-29del
XM_017017791.1:c.2639-30_2639-29del	XP_016873280.1:n.2639-30_2639-29del
XM_017017792.2:c.2639-30_2639-29del	XP_016873281.1:n.2639-30_2639-29del
XR_002957150.1:n.3372-30_3372-29del
NM_001351834.2:c.2639-30_2639-29del	NP_001338763.1:n.2639-30_2639-29del
NM_000051.4:c.2639-30_2639-29del MANE Select	NP_000042.3:n.2639-30_2639-29del