Canonical Allele Identifier: CA1998805523

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108320003_108320004delinsCA , CM000673.2:g.108320003_108320004delinsCA	GRCh38
NC_000011.9:g.108190730_108190731delinsCA , CM000673.1:g.108190730_108190731delinsCA	GRCh37
NC_000011.8:g.107695940_107695941delinsCA	NCBI36
NG_009830.1:g.102172_102173delinsCA , LRG_135:g.102172_102173delinsCA
NG_054724.1:g.154829_154830delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6397_6398delinsCA (ATM)	ENSP00000388058.2:p.Gln2133=
ENST00000713593.1:c.*5868_*5869delinsCA (ATM)	ENSP00000518889.1:n.*5868_*5869delinsCA
ENST00000278616.9:c.6397_6398delinsCA (ATM)	ENSP00000278616.4:p.Gln2133=
ENST00000525056.2:n.816_817delinsCA (ATM)
ENST00000682286.1:n.1154_1155delinsCA (ATM)
ENST00000682302.1:n.815_816delinsCA (ATM)
ENST00000683174.1:n.7881_7882delinsCA (ATM)
ENST00000683524.1:n.1621_1622delinsCA (ATM)
ENST00000684152.1:n.2111_2112delinsCA (ATM)
ENST00000527805.6:c.*1461_*1462delinsCA (ATM)	ENSP00000435747.2:n.*1461_*1462delinsCA
ENST00000675595.1:c.*1461_*1462delinsCA (ATM)	ENSP00000502563.1:n.*1461_*1462delinsCA
ENST00000675843.1:c.6397_6398delinsCA (ATM) MANE Select	ENSP00000501606.1:p.Gln2133=
ENST00000278616.8:c.6397_6398delinsCA (ATM)	ENSP00000278616.4:p.Gln2133=
ENST00000452508.6:c.6397_6398delinsCA (ATM)	ENSP00000388058.2:p.Gln2133=
ENST00000524792.5:n.2612_2613delinsCA (ATM)
ENST00000525729.5:c.641-10933_641-10932delinsTG (C11orf65)	ENSP00000433395.1:n.641-10933_641-10932delinsTG
ENST00000533690.5:n.1801_1802delinsCA (ATM)
NM_000051.3:c.6397_6398delinsCA , LRG_135t1:c.6397_6398delinsCA (ATM)	NP_000042.3:p.Gln2133=
XM_005271561.3:c.6397_6398delinsCA (ATM)	XP_005271618.2:p.Gln2133=
XM_005271562.3:c.6397_6398delinsCA (ATM)	XP_005271619.2:p.Gln2133=
XM_006718843.2:c.6397_6398delinsCA (ATM)	XP_006718906.1:p.Gln2133=
XM_006718845.1:c.2353_2354delinsCA (ATM)	XP_006718908.1:p.Gln785=
XM_011542840.1:c.6397_6398delinsCA (ATM)	XP_011541142.1:p.Gln2133=
XM_011542841.1:c.6397_6398delinsCA (ATM)	XP_011541143.1:p.Gln2133=
XM_011542842.1:c.6232_6233delinsCA (ATM)	XP_011541144.1:p.Gln2078=
XM_011542843.1:c.6397_6398delinsCA (ATM)	XP_011541145.1:p.Gln2133=
XM_011542844.1:c.5353_5354delinsCA (ATM)	XP_011541146.1:p.Gln1785=
XM_011542845.1:c.5089_5090delinsCA (ATM)	XP_011541147.1:p.Gln1697=
XM_011542847.1:c.1468_1469delinsCA (ATM)	XP_011541149.1:p.Gln490=
NM_001330368.1:c.641-10933_641-10932delinsTG (C11orf65)	NP_001317297.1:n.641-10933_641-10932delinsTG
NM_001351110.1:c.*39-10933_*39-10932delinsTG (C11orf65)	NP_001338039.1:n.*39-10933_*39-10932delinsTG
NM_001351834.1:c.6397_6398delinsCA (ATM)	NP_001338763.1:p.Gln2133=
XM_005271562.5:c.6397_6398delinsCA (ATM)	XP_005271619.2:p.Gln2133=
XM_006718843.4:c.6397_6398delinsCA (ATM)	XP_006718906.1:p.Gln2133=
XM_006718845.2:c.2353_2354delinsCA (ATM)	XP_006718908.1:p.Gln785=
XM_011542840.3:c.6397_6398delinsCA (ATM)	XP_011541142.1:p.Gln2133=
XM_011542842.3:c.6232_6233delinsCA (ATM)	XP_011541144.1:p.Gln2078=
XM_011542843.2:c.6397_6398delinsCA (ATM)	XP_011541145.1:p.Gln2133=
XM_011542844.3:c.5353_5354delinsCA (ATM)	XP_011541146.1:p.Gln1785=
XM_011542845.2:c.5089_5090delinsCA (ATM)	XP_011541147.1:p.Gln1697=
XM_017017789.2:c.6397_6398delinsCA (ATM)	XP_016873278.1:p.Gln2133=
XM_017017790.2:c.6397_6398delinsCA (ATM)	XP_016873279.1:p.Gln2133=
XM_017017791.1:c.6397_6398delinsCA (ATM)	XP_016873280.1:p.Gln2133=
NM_001330368.2:c.641-10933_641-10932delinsTG (C11orf65)	NP_001317297.1:n.641-10933_641-10932delinsTG
NM_001351110.2:c.*39-10933_*39-10932delinsTG (C11orf65)	NP_001338039.1:n.*39-10933_*39-10932delinsTG
NM_001351834.2:c.6397_6398delinsCA (ATM)	NP_001338763.1:p.Gln2133=
NM_000051.4:c.6397_6398delinsCA (ATM) MANE Select	NP_000042.3:p.Gln2133=