Canonical Allele Identifier: CA16613119

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 407459
• ClinVar RCV Id: RCV000458913
• dbSNP Id: rs1060501533
• gnomAD v4: 11-108327642-C-CT
• MyVariant Identifiers: chr11:g.108198369_108198370insT (hg19) ; chr11:g.108327642_108327643insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327642_108327643insT , CM000673.2:g.108327642_108327643insT	GRCh38
NC_000011.9:g.108198369_108198370insT , CM000673.1:g.108198369_108198370insT	GRCh37
NC_000011.8:g.107703579_107703580insT	NCBI36
NG_009830.1:g.109811_109812insT , LRG_135:g.109811_109812insT
NG_054724.1:g.147190_147191insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6976-3_6976-2insT (ATM)	ENSP00000388058.2:n.6976-3_6976-2insT
ENST00000713593.1:c.*6447-3_*6447-2insT (ATM)	ENSP00000518889.1:n.*6447-3_*6447-2insT
ENST00000278616.9:c.6976-3_6976-2insT (ATM)	ENSP00000278616.4:n.6976-3_6976-2insT
ENST00000525056.2:n.1395-3_1395-2insT (ATM)
ENST00000682286.1:n.1733-3_1733-2insT (ATM)
ENST00000682302.1:n.1394-3_1394-2insT (ATM)
ENST00000683174.1:n.8460-3_8460-2insT (ATM)
ENST00000683524.1:n.2200-3_2200-2insT (ATM)
ENST00000684152.1:n.2690-3_2690-2insT (ATM)
ENST00000684447.1:n.1436_1437insT (ATM)
ENST00000527805.6:c.*2040-3_*2040-2insT (ATM)	ENSP00000435747.2:n.*2040-3_*2040-2insT
ENST00000675595.1:c.*2111-3_*2111-2insT (ATM)	ENSP00000502563.1:n.*2111-3_*2111-2insT
ENST00000675843.1:c.6976-3_6976-2insT (ATM) MANE Select	ENSP00000501606.1:n.6976-3_6976-2insT
ENST00000278616.8:c.6976-3_6976-2insT (ATM)	ENSP00000278616.4:n.6976-3_6976-2insT
ENST00000452508.6:c.6976-3_6976-2insT (ATM)	ENSP00000388058.2:n.6976-3_6976-2insT
ENST00000524792.5:n.3191-3_3191-2insT (ATM)
ENST00000525537.2:n.249_250insT (ATM)
ENST00000525729.5:c.641-18572_641-18571insA (C11orf65)	ENSP00000433395.1:n.641-18572_641-18571insA
ENST00000533690.5:n.2380-3_2380-2insT (ATM)
NM_000051.3:c.6976-3_6976-2insT , LRG_135t1:c.6976-3_6976-2insT (ATM)	NP_000042.3:n.6976-3_6976-2insT
XM_005271561.3:c.6976-3_6976-2insT (ATM)	XP_005271618.2:n.6976-3_6976-2insT
XM_005271562.3:c.6976-3_6976-2insT (ATM)	XP_005271619.2:n.6976-3_6976-2insT
XM_006718843.2:c.6976-3_6976-2insT (ATM)	XP_006718906.1:n.6976-3_6976-2insT
XM_006718845.1:c.2932-3_2932-2insT (ATM)	XP_006718908.1:n.2932-3_2932-2insT
XM_011542840.1:c.6976-3_6976-2insT (ATM)	XP_011541142.1:n.6976-3_6976-2insT
XM_011542841.1:c.6976-3_6976-2insT (ATM)	XP_011541143.1:n.6976-3_6976-2insT
XM_011542842.1:c.6811-3_6811-2insT (ATM)	XP_011541144.1:n.6811-3_6811-2insT
XM_011542843.1:c.6976-3_6976-2insT (ATM)	XP_011541145.1:n.6976-3_6976-2insT
XM_011542844.1:c.5932-3_5932-2insT (ATM)	XP_011541146.1:n.5932-3_5932-2insT
XM_011542845.1:c.5668-3_5668-2insT (ATM)	XP_011541147.1:n.5668-3_5668-2insT
XM_011542847.1:c.2047-3_2047-2insT (ATM)	XP_011541149.1:n.2047-3_2047-2insT
NM_001330368.1:c.641-18572_641-18571insA (C11orf65)	NP_001317297.1:n.641-18572_641-18571insA
NM_001351110.1:c.*38+7577_*38+7578insA (C11orf65)	NP_001338039.1:n.*38+7577_*38+7578insA
NM_001351834.1:c.6976-3_6976-2insT (ATM)	NP_001338763.1:n.6976-3_6976-2insT
XM_005271562.5:c.6976-3_6976-2insT (ATM)	XP_005271619.2:n.6976-3_6976-2insT
XM_006718843.4:c.6976-3_6976-2insT (ATM)	XP_006718906.1:n.6976-3_6976-2insT
XM_006718845.2:c.2932-3_2932-2insT (ATM)	XP_006718908.1:n.2932-3_2932-2insT
XM_011542840.3:c.6976-3_6976-2insT (ATM)	XP_011541142.1:n.6976-3_6976-2insT
XM_011542842.3:c.6811-3_6811-2insT (ATM)	XP_011541144.1:n.6811-3_6811-2insT
XM_011542843.2:c.6976-3_6976-2insT (ATM)	XP_011541145.1:n.6976-3_6976-2insT
XM_011542844.3:c.5932-3_5932-2insT (ATM)	XP_011541146.1:n.5932-3_5932-2insT
XM_011542845.2:c.5668-3_5668-2insT (ATM)	XP_011541147.1:n.5668-3_5668-2insT
XM_017017789.2:c.6976-3_6976-2insT (ATM)	XP_016873278.1:n.6976-3_6976-2insT
XM_017017790.2:c.6976-3_6976-2insT (ATM)	XP_016873279.1:n.6976-3_6976-2insT
NM_001330368.2:c.641-18572_641-18571insA (C11orf65)	NP_001317297.1:n.641-18572_641-18571insA
NM_001351110.2:c.*38+7577_*38+7578insA (C11orf65)	NP_001338039.1:n.*38+7577_*38+7578insA
NM_001351834.2:c.6976-3_6976-2insT (ATM)	NP_001338763.1:n.6976-3_6976-2insT
NM_000051.4:c.6976-3_6976-2insT (ATM) MANE Select	NP_000042.3:n.6976-3_6976-2insT