Canonical Allele Identifier: CA658656293

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 478954
• ClinVar RCV Id: RCV000562666 ; RCV003500544
• dbSNP Id: rs1555124054
• MyVariant Identifiers: chr11:g.108202230_108202231insTTC (hg19) ; chr11:g.108331503_108331504insTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331503_108331504insTTC , CM000673.2:g.108331503_108331504insTTC	GRCh38
NC_000011.9:g.108202230_108202231insTTC , CM000673.1:g.108202230_108202231insTTC	GRCh37
NC_000011.8:g.107707440_107707441insTTC	NCBI36
NG_009830.1:g.113672_113673insTTC , LRG_135:g.113672_113673insTTC
NG_054724.1:g.143329_143330insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7575_7576insTTC (ATM)	ENSP00000388058.2:p.Ala2525_Arg2526insPhe
ENST00000713593.1:c.*7046_*7047insTTC (ATM)	ENSP00000518889.1:n.*7046_*7047insTTC
ENST00000278616.9:c.7575_7576insTTC (ATM)	ENSP00000278616.4:p.Ala2525_Arg2526insPhe
ENST00000525056.2:n.1994_1995insTTC (ATM)
ENST00000525537.3:n.532_533insTTC (ATM)
ENST00000638786.2:n.412_413insTTC (ATM)
ENST00000682286.1:n.2332_2333insTTC (ATM)
ENST00000682302.1:n.1993_1994insTTC (ATM)
ENST00000683174.1:n.9059_9060insTTC (ATM)
ENST00000683524.1:n.2799_2800insTTC (ATM)
ENST00000684152.1:n.3289_3290insTTC (ATM)
ENST00000684447.1:n.2038_2039insTTC (ATM)
ENST00000527805.6:c.*2639_*2640insTTC (ATM)	ENSP00000435747.2:n.*2639_*2640insTTC
ENST00000675595.1:c.*2710_*2711insTTC (ATM)	ENSP00000502563.1:n.*2710_*2711insTTC
ENST00000675843.1:c.7575_7576insTTC (ATM) MANE Select	ENSP00000501606.1:p.Ala2525_Arg2526insPhe
ENST00000278616.8:c.7575_7576insTTC (ATM)	ENSP00000278616.4:p.Ala2525_Arg2526insPhe
ENST00000452508.6:c.7575_7576insTTC (ATM)	ENSP00000388058.2:p.Ala2525_Arg2526insPhe
ENST00000524755.5:c.363_364insGAA (C11orf65)
ENST00000524792.5:n.3790_3791insTTC (ATM)
ENST00000525729.5:c.641-22433_641-22432insGAA (C11orf65)	ENSP00000433395.1:n.641-22433_641-22432insGAA
ENST00000527531.5:c.*1333_*1334insGAA (C11orf65)	ENSP00000431706.1:n.*1333_*1334insGAA
ENST00000533690.5:n.2979_2980insTTC (ATM)
ENST00000615746.4:c.*1333_*1334insGAA (C11orf65)	ENSP00000483537.1:n.*1333_*1334insGAA
NM_000051.3:c.7575_7576insTTC , LRG_135t1:c.7575_7576insTTC (ATM)	NP_000042.3:p.Ala2525_Arg2526insPhe
XM_005271414.3:c.*102_*103insGAA (C11orf65)	XP_005271471.1:n.*102_*103insGAA
XM_005271415.3:c.*46_*47insGAA (C11orf65)	XP_005271472.1:n.*46_*47insGAA
XM_005271561.3:c.7575_7576insTTC (ATM)	XP_005271618.2:p.Ala2525_Arg2526insPhe
XM_005271562.3:c.7575_7576insTTC (ATM)	XP_005271619.2:p.Ala2525_Arg2526insPhe
XM_006718843.2:c.7575_7576insTTC (ATM)	XP_006718906.1:p.Ala2525_Arg2526insPhe
XM_006718845.1:c.3531_3532insTTC (ATM)	XP_006718908.1:p.Ala1177_Arg1178insPhe
XM_011542840.1:c.7575_7576insTTC (ATM)	XP_011541142.1:p.Ala2525_Arg2526insPhe
XM_011542841.1:c.7575_7576insTTC (ATM)	XP_011541143.1:p.Ala2525_Arg2526insPhe
XM_011542842.1:c.7410_7411insTTC (ATM)	XP_011541144.1:p.Ala2470_Arg2471insPhe
XM_011542843.1:c.7575_7576insTTC (ATM)	XP_011541145.1:p.Ala2525_Arg2526insPhe
XM_011542844.1:c.6531_6532insTTC (ATM)	XP_011541146.1:p.Ala2177_Arg2178insPhe
XM_011542845.1:c.6267_6268insTTC (ATM)	XP_011541147.1:p.Ala2089_Arg2090insPhe
XM_011542847.1:c.2646_2647insTTC (ATM)	XP_011541149.1:p.Ala882_Arg883insPhe
NM_001330368.1:c.641-22433_641-22432insGAA (C11orf65)	NP_001317297.1:n.641-22433_641-22432insGAA
NM_001351110.1:c.*38+3716_*38+3717insGAA (C11orf65)	NP_001338039.1:n.*38+3716_*38+3717insGAA
NM_001351834.1:c.7575_7576insTTC (ATM)	NP_001338763.1:p.Ala2525_Arg2526insPhe
NR_147053.2:n.2438_2439insGAA (C11orf65)
XM_005271414.4:c.*102_*103insGAA (C11orf65)	XP_005271471.1:n.*102_*103insGAA
XM_005271415.4:c.*46_*47insGAA (C11orf65)	XP_005271472.1:n.*46_*47insGAA
XM_005271562.5:c.7575_7576insTTC (ATM)	XP_005271619.2:p.Ala2525_Arg2526insPhe
XM_006718843.4:c.7575_7576insTTC (ATM)	XP_006718906.1:p.Ala2525_Arg2526insPhe
XM_006718845.2:c.3531_3532insTTC (ATM)	XP_006718908.1:p.Ala1177_Arg1178insPhe
XM_011542840.3:c.7575_7576insTTC (ATM)	XP_011541142.1:p.Ala2525_Arg2526insPhe
XM_011542842.3:c.7410_7411insTTC (ATM)	XP_011541144.1:p.Ala2470_Arg2471insPhe
XM_011542843.2:c.7575_7576insTTC (ATM)	XP_011541145.1:p.Ala2525_Arg2526insPhe
XM_011542844.3:c.6531_6532insTTC (ATM)	XP_011541146.1:p.Ala2177_Arg2178insPhe
XM_011542845.2:c.6267_6268insTTC (ATM)	XP_011541147.1:p.Ala2089_Arg2090insPhe
XM_017017789.2:c.7575_7576insTTC (ATM)	XP_016873278.1:p.Ala2525_Arg2526insPhe
XM_017017790.2:c.7575_7576insTTC (ATM)	XP_016873279.1:p.Ala2525_Arg2526insPhe
NM_001330368.2:c.641-22433_641-22432insGAA (C11orf65)	NP_001317297.1:n.641-22433_641-22432insGAA
NM_001351110.2:c.*38+3716_*38+3717insGAA (C11orf65)	NP_001338039.1:n.*38+3716_*38+3717insGAA
NM_001351834.2:c.7575_7576insTTC (ATM)	NP_001338763.1:p.Ala2525_Arg2526insPhe
NM_000051.4:c.7575_7576insTTC (ATM) MANE Select	NP_000042.3:p.Ala2525_Arg2526insPhe
NR_147053.3:n.2436_2437insGAA (C11orf65)