Canonical Allele Identifier: CA671414476

Gene: ATM

Linked Data

• dbSNP Id: rs1253197246
• gnomAD v3: 11-108304562-TATC-T
• gnomAD v4: 11-108304562-TATC-T
• MyVariant Identifiers: chr11:g.108175290_108175292del (hg19) ; chr11:g.108304563_108304565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304566_108304568del , CM000673.2:g.108304566_108304568del	GRCh38
NC_000011.9:g.108175293_108175295del , CM000673.1:g.108175293_108175295del	GRCh37
NC_000011.8:g.107680503_107680505del	NCBI36
NG_009830.1:g.86735_86737del , LRG_135:g.86735_86737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5497-109_5497-107del	ENSP00000388058.2:n.5497-109_5497-107del
ENST00000713593.1:c.*4968-109_*4968-107del	ENSP00000518889.1:n.*4968-109_*4968-107del
ENST00000278616.9:c.5497-109_5497-107del	ENSP00000278616.4:n.5497-109_5497-107del
ENST00000683174.1:n.6981-109_6981-107del
ENST00000683524.1:n.721-109_721-107del
ENST00000684152.1:n.1211-109_1211-107del
ENST00000527805.6:c.*561-109_*561-107del	ENSP00000435747.2:n.*561-109_*561-107del
ENST00000675595.1:c.*561-109_*561-107del	ENSP00000502563.1:n.*561-109_*561-107del
ENST00000675843.1:c.5497-109_5497-107del MANE Select	ENSP00000501606.1:n.5497-109_5497-107del
ENST00000278616.8:c.5497-109_5497-107del	ENSP00000278616.4:n.5497-109_5497-107del
ENST00000452508.6:c.5497-109_5497-107del	ENSP00000388058.2:n.5497-109_5497-107del
ENST00000524792.5:n.1712-109_1712-107del
ENST00000529588.5:c.9-109_9-107del
ENST00000533690.5:n.901-109_901-107del
NM_000051.3:c.5497-109_5497-107del , LRG_135t1:c.5497-109_5497-107del	NP_000042.3:n.5497-109_5497-107del
XM_005271561.3:c.5497-109_5497-107del	XP_005271618.2:n.5497-109_5497-107del
XM_005271562.3:c.5497-109_5497-107del	XP_005271619.2:n.5497-109_5497-107del
XM_006718843.2:c.5497-109_5497-107del	XP_006718906.1:n.5497-109_5497-107del
XM_006718845.1:c.1453-109_1453-107del	XP_006718908.1:n.1453-109_1453-107del
XM_011542840.1:c.5497-109_5497-107del	XP_011541142.1:n.5497-109_5497-107del
XM_011542841.1:c.5497-109_5497-107del	XP_011541143.1:n.5497-109_5497-107del
XM_011542842.1:c.5332-109_5332-107del	XP_011541144.1:n.5332-109_5332-107del
XM_011542843.1:c.5497-109_5497-107del	XP_011541145.1:n.5497-109_5497-107del
XM_011542844.1:c.4453-109_4453-107del	XP_011541146.1:n.4453-109_4453-107del
XM_011542845.1:c.4189-109_4189-107del	XP_011541147.1:n.4189-109_4189-107del
XM_011542847.1:c.568-109_568-107del	XP_011541149.1:n.568-109_568-107del
NM_001351834.1:c.5497-109_5497-107del	NP_001338763.1:n.5497-109_5497-107del
XM_005271562.5:c.5497-109_5497-107del	XP_005271619.2:n.5497-109_5497-107del
XM_006718843.4:c.5497-109_5497-107del	XP_006718906.1:n.5497-109_5497-107del
XM_006718845.2:c.1453-109_1453-107del	XP_006718908.1:n.1453-109_1453-107del
XM_011542840.3:c.5497-109_5497-107del	XP_011541142.1:n.5497-109_5497-107del
XM_011542842.3:c.5332-109_5332-107del	XP_011541144.1:n.5332-109_5332-107del
XM_011542843.2:c.5497-109_5497-107del	XP_011541145.1:n.5497-109_5497-107del
XM_011542844.3:c.4453-109_4453-107del	XP_011541146.1:n.4453-109_4453-107del
XM_011542845.2:c.4189-109_4189-107del	XP_011541147.1:n.4189-109_4189-107del
XM_017017789.2:c.5497-109_5497-107del	XP_016873278.1:n.5497-109_5497-107del
XM_017017790.2:c.5497-109_5497-107del	XP_016873279.1:n.5497-109_5497-107del
XM_017017791.1:c.5497-109_5497-107del	XP_016873280.1:n.5497-109_5497-107del
XR_002957150.1:n.6097-109_6097-107del
NM_001351834.2:c.5497-109_5497-107del	NP_001338763.1:n.5497-109_5497-107del
NM_000051.4:c.5497-109_5497-107del MANE Select	NP_000042.3:n.5497-109_5497-107del