Canonical Allele Identifier: CA671420464

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1280986257
• gnomAD v3: 11-108315658-TGAACTGTATTTCA-T
• gnomAD v4: 11-108315658-TGAACTGTATTTCA-T
• MyVariant Identifiers: chr11:g.108186386_108186398del (hg19) ; chr11:g.108315659_108315671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315675_108315687del , CM000673.2:g.108315675_108315687del	GRCh38
NC_000011.9:g.108186402_108186414del , CM000673.1:g.108186402_108186414del	GRCh37
NC_000011.8:g.107691612_107691624del	NCBI36
NG_009830.1:g.97844_97856del , LRG_135:g.97844_97856del
NG_054724.1:g.159162_159174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6007-148_6007-136del (ATM)	ENSP00000388058.2:n.6007-148_6007-136del
ENST00000713593.1:c.*5478-148_*5478-136del (ATM)	ENSP00000518889.1:n.*5478-148_*5478-136del
ENST00000278616.9:c.6007-148_6007-136del (ATM)	ENSP00000278616.4:n.6007-148_6007-136del
ENST00000525056.2:n.426-148_426-136del (ATM)
ENST00000682286.1:n.764-148_764-136del (ATM)
ENST00000682302.1:n.425-148_425-136del (ATM)
ENST00000683174.1:n.7491-148_7491-136del (ATM)
ENST00000683524.1:n.1231-148_1231-136del (ATM)
ENST00000684152.1:n.1721-148_1721-136del (ATM)
ENST00000527805.6:c.*1071-148_*1071-136del (ATM)	ENSP00000435747.2:n.*1071-148_*1071-136del
ENST00000675595.1:c.*1071-148_*1071-136del (ATM)	ENSP00000502563.1:n.*1071-148_*1071-136del
ENST00000675843.1:c.6007-148_6007-136del (ATM) MANE Select	ENSP00000501606.1:n.6007-148_6007-136del
ENST00000278616.8:c.6007-148_6007-136del (ATM)	ENSP00000278616.4:n.6007-148_6007-136del
ENST00000452508.6:c.6007-148_6007-136del (ATM)	ENSP00000388058.2:n.6007-148_6007-136del
ENST00000524792.5:n.2222-148_2222-136del (ATM)
ENST00000525729.5:c.641-6600_641-6588del (C11orf65)	ENSP00000433395.1:n.641-6600_641-6588del
ENST00000529588.5:c.431-148_431-136del (ATM)
ENST00000532765.1:n.324-148_324-136del (ATM)
ENST00000533690.5:n.1411-148_1411-136del (ATM)
NM_000051.3:c.6007-148_6007-136del , LRG_135t1:c.6007-148_6007-136del (ATM)	NP_000042.3:n.6007-148_6007-136del
XM_005271561.3:c.6007-148_6007-136del (ATM)	XP_005271618.2:n.6007-148_6007-136del
XM_005271562.3:c.6007-148_6007-136del (ATM)	XP_005271619.2:n.6007-148_6007-136del
XM_006718843.2:c.6007-148_6007-136del (ATM)	XP_006718906.1:n.6007-148_6007-136del
XM_006718845.1:c.1963-148_1963-136del (ATM)	XP_006718908.1:n.1963-148_1963-136del
XM_011542840.1:c.6007-148_6007-136del (ATM)	XP_011541142.1:n.6007-148_6007-136del
XM_011542841.1:c.6007-148_6007-136del (ATM)	XP_011541143.1:n.6007-148_6007-136del
XM_011542842.1:c.5842-148_5842-136del (ATM)	XP_011541144.1:n.5842-148_5842-136del
XM_011542843.1:c.6007-148_6007-136del (ATM)	XP_011541145.1:n.6007-148_6007-136del
XM_011542844.1:c.4963-148_4963-136del (ATM)	XP_011541146.1:n.4963-148_4963-136del
XM_011542845.1:c.4699-148_4699-136del (ATM)	XP_011541147.1:n.4699-148_4699-136del
XM_011542847.1:c.1078-148_1078-136del (ATM)	XP_011541149.1:n.1078-148_1078-136del
NM_001330368.1:c.641-6600_641-6588del (C11orf65)	NP_001317297.1:n.641-6600_641-6588del
NM_001351110.1:c.*39-6600_*39-6588del (C11orf65)	NP_001338039.1:n.*39-6600_*39-6588del
NM_001351834.1:c.6007-148_6007-136del (ATM)	NP_001338763.1:n.6007-148_6007-136del
XM_005271562.5:c.6007-148_6007-136del (ATM)	XP_005271619.2:n.6007-148_6007-136del
XM_006718843.4:c.6007-148_6007-136del (ATM)	XP_006718906.1:n.6007-148_6007-136del
XM_006718845.2:c.1963-148_1963-136del (ATM)	XP_006718908.1:n.1963-148_1963-136del
XM_011542840.3:c.6007-148_6007-136del (ATM)	XP_011541142.1:n.6007-148_6007-136del
XM_011542842.3:c.5842-148_5842-136del (ATM)	XP_011541144.1:n.5842-148_5842-136del
XM_011542843.2:c.6007-148_6007-136del (ATM)	XP_011541145.1:n.6007-148_6007-136del
XM_011542844.3:c.4963-148_4963-136del (ATM)	XP_011541146.1:n.4963-148_4963-136del
XM_011542845.2:c.4699-148_4699-136del (ATM)	XP_011541147.1:n.4699-148_4699-136del
XM_017017789.2:c.6007-148_6007-136del (ATM)	XP_016873278.1:n.6007-148_6007-136del
XM_017017790.2:c.6007-148_6007-136del (ATM)	XP_016873279.1:n.6007-148_6007-136del
XM_017017791.1:c.6007-148_6007-136del (ATM)	XP_016873280.1:n.6007-148_6007-136del
NM_001330368.2:c.641-6600_641-6588del (C11orf65)	NP_001317297.1:n.641-6600_641-6588del
NM_001351110.2:c.*39-6600_*39-6588del (C11orf65)	NP_001338039.1:n.*39-6600_*39-6588del
NM_001351834.2:c.6007-148_6007-136del (ATM)	NP_001338763.1:n.6007-148_6007-136del
NM_000051.4:c.6007-148_6007-136del (ATM) MANE Select	NP_000042.3:n.6007-148_6007-136del