Canonical Allele Identifier: CA671414597

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1442600725
• gnomAD v3: 11-108327329-CTTAT-C
• gnomAD v4: 11-108327329-CTTAT-C
• MyVariant Identifiers: chr11:g.108198057_108198060del (hg19) ; chr11:g.108327330_108327333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327333_108327336del , CM000673.2:g.108327333_108327336del	GRCh38
NC_000011.9:g.108198060_108198063del , CM000673.1:g.108198060_108198063del	GRCh37
NC_000011.8:g.107703270_107703273del	NCBI36
NG_009830.1:g.109502_109505del , LRG_135:g.109502_109505del
NG_054724.1:g.147500_147503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6976-312_6976-309del (ATM)	ENSP00000388058.2:n.6976-312_6976-309del
ENST00000713593.1:c.*6447-312_*6447-309del (ATM)	ENSP00000518889.1:n.*6447-312_*6447-309del
ENST00000278616.9:c.6976-312_6976-309del (ATM)	ENSP00000278616.4:n.6976-312_6976-309del
ENST00000525056.2:n.1395-312_1395-309del (ATM)
ENST00000682286.1:n.1733-312_1733-309del (ATM)
ENST00000682302.1:n.1394-312_1394-309del (ATM)
ENST00000683174.1:n.8460-312_8460-309del (ATM)
ENST00000683524.1:n.2200-312_2200-309del (ATM)
ENST00000684152.1:n.2690-312_2690-309del (ATM)
ENST00000684447.1:n.1127_1130del (ATM)
ENST00000527805.6:c.*2040-312_*2040-309del (ATM)	ENSP00000435747.2:n.*2040-312_*2040-309del
ENST00000675595.1:c.*2111-312_*2111-309del (ATM)	ENSP00000502563.1:n.*2111-312_*2111-309del
ENST00000675843.1:c.6976-312_6976-309del (ATM) MANE Select	ENSP00000501606.1:n.6976-312_6976-309del
ENST00000278616.8:c.6976-312_6976-309del (ATM)	ENSP00000278616.4:n.6976-312_6976-309del
ENST00000452508.6:c.6976-312_6976-309del (ATM)	ENSP00000388058.2:n.6976-312_6976-309del
ENST00000524792.5:n.3191-312_3191-309del (ATM)
ENST00000525729.5:c.641-18262_641-18259del (C11orf65)	ENSP00000433395.1:n.641-18262_641-18259del
ENST00000533690.5:n.2380-312_2380-309del (ATM)
NM_000051.3:c.6976-312_6976-309del , LRG_135t1:c.6976-312_6976-309del (ATM)	NP_000042.3:n.6976-312_6976-309del
XM_005271561.3:c.6976-312_6976-309del (ATM)	XP_005271618.2:n.6976-312_6976-309del
XM_005271562.3:c.6976-312_6976-309del (ATM)	XP_005271619.2:n.6976-312_6976-309del
XM_006718843.2:c.6976-312_6976-309del (ATM)	XP_006718906.1:n.6976-312_6976-309del
XM_006718845.1:c.2932-312_2932-309del (ATM)	XP_006718908.1:n.2932-312_2932-309del
XM_011542840.1:c.6976-312_6976-309del (ATM)	XP_011541142.1:n.6976-312_6976-309del
XM_011542841.1:c.6976-312_6976-309del (ATM)	XP_011541143.1:n.6976-312_6976-309del
XM_011542842.1:c.6811-312_6811-309del (ATM)	XP_011541144.1:n.6811-312_6811-309del
XM_011542843.1:c.6976-312_6976-309del (ATM)	XP_011541145.1:n.6976-312_6976-309del
XM_011542844.1:c.5932-312_5932-309del (ATM)	XP_011541146.1:n.5932-312_5932-309del
XM_011542845.1:c.5668-312_5668-309del (ATM)	XP_011541147.1:n.5668-312_5668-309del
XM_011542847.1:c.2047-312_2047-309del (ATM)	XP_011541149.1:n.2047-312_2047-309del
NM_001330368.1:c.641-18262_641-18259del (C11orf65)	NP_001317297.1:n.641-18262_641-18259del
NM_001351110.1:c.*38+7887_*38+7890del (C11orf65)	NP_001338039.1:n.*38+7887_*38+7890del
NM_001351834.1:c.6976-312_6976-309del (ATM)	NP_001338763.1:n.6976-312_6976-309del
XM_005271562.5:c.6976-312_6976-309del (ATM)	XP_005271619.2:n.6976-312_6976-309del
XM_006718843.4:c.6976-312_6976-309del (ATM)	XP_006718906.1:n.6976-312_6976-309del
XM_006718845.2:c.2932-312_2932-309del (ATM)	XP_006718908.1:n.2932-312_2932-309del
XM_011542840.3:c.6976-312_6976-309del (ATM)	XP_011541142.1:n.6976-312_6976-309del
XM_011542842.3:c.6811-312_6811-309del (ATM)	XP_011541144.1:n.6811-312_6811-309del
XM_011542843.2:c.6976-312_6976-309del (ATM)	XP_011541145.1:n.6976-312_6976-309del
XM_011542844.3:c.5932-312_5932-309del (ATM)	XP_011541146.1:n.5932-312_5932-309del
XM_011542845.2:c.5668-312_5668-309del (ATM)	XP_011541147.1:n.5668-312_5668-309del
XM_017017789.2:c.6976-312_6976-309del (ATM)	XP_016873278.1:n.6976-312_6976-309del
XM_017017790.2:c.6976-312_6976-309del (ATM)	XP_016873279.1:n.6976-312_6976-309del
NM_001330368.2:c.641-18262_641-18259del (C11orf65)	NP_001317297.1:n.641-18262_641-18259del
NM_001351110.2:c.*38+7887_*38+7890del (C11orf65)	NP_001338039.1:n.*38+7887_*38+7890del
NM_001351834.2:c.6976-312_6976-309del (ATM)	NP_001338763.1:n.6976-312_6976-309del
NM_000051.4:c.6976-312_6976-309del (ATM) MANE Select	NP_000042.3:n.6976-312_6976-309del