Canonical Allele Identifier: CA942025127

Gene: ATM

Linked Data

• dbSNP Id: rs2083584767
• gnomAD v3: 11-108304606-TTAAGTAAAATG-T
• gnomAD v4: 11-108304606-TTAAGTAAAATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304609_108304619del , CM000673.2:g.108304609_108304619del	GRCh38
NC_000011.9:g.108175336_108175346del , CM000673.1:g.108175336_108175346del	GRCh37
NC_000011.8:g.107680546_107680556del	NCBI36
NG_009830.1:g.86778_86788del , LRG_135:g.86778_86788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5497-66_5497-56del	ENSP00000388058.2:n.5497-66_5497-56del
ENST00000713593.1:c.*4968-66_*4968-56del	ENSP00000518889.1:n.*4968-66_*4968-56del
ENST00000278616.9:c.5497-66_5497-56del	ENSP00000278616.4:n.5497-66_5497-56del
ENST00000683174.1:n.6981-66_6981-56del
ENST00000683524.1:n.721-66_721-56del
ENST00000684152.1:n.1211-66_1211-56del
ENST00000527805.6:c.*561-66_*561-56del	ENSP00000435747.2:n.*561-66_*561-56del
ENST00000675595.1:c.*561-66_*561-56del	ENSP00000502563.1:n.*561-66_*561-56del
ENST00000675843.1:c.5497-66_5497-56del MANE Select	ENSP00000501606.1:n.5497-66_5497-56del
ENST00000278616.8:c.5497-66_5497-56del	ENSP00000278616.4:n.5497-66_5497-56del
ENST00000452508.6:c.5497-66_5497-56del	ENSP00000388058.2:n.5497-66_5497-56del
ENST00000524792.5:n.1712-66_1712-56del
ENST00000529588.5:c.9-66_9-56del
ENST00000533690.5:n.901-66_901-56del
NM_000051.3:c.5497-66_5497-56del , LRG_135t1:c.5497-66_5497-56del	NP_000042.3:n.5497-66_5497-56del
XM_005271561.3:c.5497-66_5497-56del	XP_005271618.2:n.5497-66_5497-56del
XM_005271562.3:c.5497-66_5497-56del	XP_005271619.2:n.5497-66_5497-56del
XM_006718843.2:c.5497-66_5497-56del	XP_006718906.1:n.5497-66_5497-56del
XM_006718845.1:c.1453-66_1453-56del	XP_006718908.1:n.1453-66_1453-56del
XM_011542840.1:c.5497-66_5497-56del	XP_011541142.1:n.5497-66_5497-56del
XM_011542841.1:c.5497-66_5497-56del	XP_011541143.1:n.5497-66_5497-56del
XM_011542842.1:c.5332-66_5332-56del	XP_011541144.1:n.5332-66_5332-56del
XM_011542843.1:c.5497-66_5497-56del	XP_011541145.1:n.5497-66_5497-56del
XM_011542844.1:c.4453-66_4453-56del	XP_011541146.1:n.4453-66_4453-56del
XM_011542845.1:c.4189-66_4189-56del	XP_011541147.1:n.4189-66_4189-56del
XM_011542847.1:c.568-66_568-56del	XP_011541149.1:n.568-66_568-56del
NM_001351834.1:c.5497-66_5497-56del	NP_001338763.1:n.5497-66_5497-56del
XM_005271562.5:c.5497-66_5497-56del	XP_005271619.2:n.5497-66_5497-56del
XM_006718843.4:c.5497-66_5497-56del	XP_006718906.1:n.5497-66_5497-56del
XM_006718845.2:c.1453-66_1453-56del	XP_006718908.1:n.1453-66_1453-56del
XM_011542840.3:c.5497-66_5497-56del	XP_011541142.1:n.5497-66_5497-56del
XM_011542842.3:c.5332-66_5332-56del	XP_011541144.1:n.5332-66_5332-56del
XM_011542843.2:c.5497-66_5497-56del	XP_011541145.1:n.5497-66_5497-56del
XM_011542844.3:c.4453-66_4453-56del	XP_011541146.1:n.4453-66_4453-56del
XM_011542845.2:c.4189-66_4189-56del	XP_011541147.1:n.4189-66_4189-56del
XM_017017789.2:c.5497-66_5497-56del	XP_016873278.1:n.5497-66_5497-56del
XM_017017790.2:c.5497-66_5497-56del	XP_016873279.1:n.5497-66_5497-56del
XM_017017791.1:c.5497-66_5497-56del	XP_016873280.1:n.5497-66_5497-56del
XR_002957150.1:n.6097-66_6097-56del
NM_001351834.2:c.5497-66_5497-56del	NP_001338763.1:n.5497-66_5497-56del
NM_000051.4:c.5497-66_5497-56del MANE Select	NP_000042.3:n.5497-66_5497-56del