Canonical Allele Identifier: CA6264717

Gene: ATM

Linked Data

• dbSNP Id: rs753330963
• ExAC: 11:108117784 ATTC / A
• gnomAD v2: 11-108117784-ATTC-A
• gnomAD v4: 11-108247057-ATTC-A
• MyVariant Identifiers: chr11:g.108117785_108117787del (hg19) ; chr11:g.108247058_108247060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247061_108247063del , CM000673.2:g.108247061_108247063del	GRCh38
NC_000011.9:g.108117788_108117790del , CM000673.1:g.108117788_108117790del	GRCh37
NC_000011.8:g.107622998_107623000del	NCBI36
NG_009830.1:g.29230_29232del , LRG_135:g.29230_29232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.999_1001del	ENSP00000388058.2:p.Ser334del
ENST00000713593.1:c.*470_*472del	ENSP00000518889.1:n.*470_*472del
ENST00000278616.9:c.999_1001del	ENSP00000278616.4:p.Ser334del
ENST00000682516.1:n.1133_1135del
ENST00000682956.1:n.1133_1135del
ENST00000683100.1:n.3346_3348del
ENST00000683174.1:n.1149_1151del
ENST00000683605.1:n.494_496del
ENST00000684037.1:c.999_1001del	ENSP00000508245.1:p.Ser334del
ENST00000684061.1:n.1133_1135del
ENST00000684179.1:n.968_970del
ENST00000527805.6:c.999_1001del	ENSP00000435747.2:p.Ser334del
ENST00000675595.1:c.834_836del	ENSP00000502563.1:p.Ser279del
ENST00000675843.1:c.999_1001del MANE Select	ENSP00000501606.1:p.Ser334del
ENST00000278616.8:c.999_1001del	ENSP00000278616.4:p.Ser334del
ENST00000452508.6:c.999_1001del	ENSP00000388058.2:p.Ser334del
ENST00000527805.5:c.999_1001del	ENSP00000435747.1:p.Ser334del
NM_000051.3:c.999_1001del , LRG_135t1:c.999_1001del	NP_000042.3:p.Ser334del
XM_005271561.3:c.999_1001del	XP_005271618.2:p.Ser334del
XM_005271562.3:c.999_1001del	XP_005271619.2:p.Ser334del
XM_006718843.2:c.999_1001del	XP_006718906.1:p.Ser334del
XM_011542840.1:c.999_1001del	XP_011541142.1:p.Ser334del
XM_011542841.1:c.999_1001del	XP_011541143.1:p.Ser334del
XM_011542842.1:c.834_836del	XP_011541144.1:p.Ser279del
XM_011542843.1:c.999_1001del	XP_011541145.1:p.Ser334del
XM_011542844.1:c.-46_-44del	XP_011541146.1:n.-46_-44del
XM_011542845.1:c.-140_-138del	XP_011541147.1:n.-140_-138del
XM_011542846.1:c.999_1001del	XP_011541148.1:p.Ser334del
NM_001351834.1:c.999_1001del	NP_001338763.1:p.Ser334del
XM_005271562.5:c.999_1001del	XP_005271619.2:p.Ser334del
XM_006718843.4:c.999_1001del	XP_006718906.1:p.Ser334del
XM_011542840.3:c.999_1001del	XP_011541142.1:p.Ser334del
XM_011542842.3:c.834_836del	XP_011541144.1:p.Ser279del
XM_011542843.2:c.999_1001del	XP_011541145.1:p.Ser334del
XM_011542844.3:c.-46_-44del	XP_011541146.1:n.-46_-44del
XM_011542845.2:c.-140_-138del	XP_011541147.1:n.-140_-138del
XM_017017789.2:c.999_1001del	XP_016873278.1:p.Ser334del
XM_017017790.2:c.999_1001del	XP_016873279.1:p.Ser334del
XM_017017791.1:c.999_1001del	XP_016873280.1:p.Ser334del
XM_017017792.2:c.999_1001del	XP_016873281.1:p.Ser334del
XR_002957150.1:n.1732_1734del
NM_001351834.2:c.999_1001del	NP_001338763.1:p.Ser334del
NM_000051.4:c.999_1001del MANE Select	NP_000042.3:p.Ser334del