Canonical Allele Identifier: CA2825001971

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 3148397
• ClinVar RCV Id: RCV004440303

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332772_108332773del , CM000673.2:g.108332772_108332773del	GRCh38
NC_000011.9:g.108203499_108203500del , CM000673.1:g.108203499_108203500del	GRCh37
NC_000011.8:g.107708709_107708710del	NCBI36
NG_009830.1:g.114941_114942del , LRG_135:g.114941_114942del
NG_054724.1:g.142062_142063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7799_7800del (ATM)	ENSP00000388058.2:p.Glu2600GlyfsTer4
ENST00000713593.1:c.*7270_*7271del (ATM)	ENSP00000518889.1:n.*7270_*7271del
ENST00000278616.9:c.7799_7800del (ATM)	ENSP00000278616.4:p.Glu2600GlyfsTer4
ENST00000525056.2:n.2218_2219del (ATM)
ENST00000525537.3:n.1480_1481del (ATM)
ENST00000638786.2:n.625+735_625+736del (ATM)
ENST00000682286.1:n.2556_2557del (ATM)
ENST00000682302.1:n.2217_2218del (ATM)
ENST00000683174.1:n.9283_9284del (ATM)
ENST00000683524.1:n.3023_3024del (ATM)
ENST00000684152.1:n.3344-1114_3344-1113del (ATM)
ENST00000684180.1:n.273_274del (ATM)
ENST00000684447.1:n.3307_3308del (ATM)
ENST00000527805.6:c.*2863_*2864del (ATM)	ENSP00000435747.2:n.*2863_*2864del
ENST00000675595.1:c.*2934_*2935del (ATM)	ENSP00000502563.1:n.*2934_*2935del
ENST00000675843.1:c.7799_7800del (ATM) MANE Select	ENSP00000501606.1:p.Glu2600GlyfsTer4
ENST00000278616.8:c.7799_7800del (ATM)	ENSP00000278616.4:p.Glu2600GlyfsTer4
ENST00000452508.6:c.7799_7800del (ATM)	ENSP00000388058.2:p.Glu2600GlyfsTer4
ENST00000524755.5:c.300-1204_300-1203del (C11orf65)
ENST00000524792.5:n.4014_4015del (ATM)
ENST00000525729.5:c.641-23700_641-23699del (C11orf65)	ENSP00000433395.1:n.641-23700_641-23699del
ENST00000527531.5:c.*1270-1204_*1270-1203del (C11orf65)	ENSP00000431706.1:n.*1270-1204_*1270-1203del
ENST00000533690.5:n.3203_3204del (ATM)
ENST00000533979.5:n.11_12del (ATM)
ENST00000615746.4:c.*1270-1204_*1270-1203del (C11orf65)	ENSP00000483537.1:n.*1270-1204_*1270-1203del
NM_000051.3:c.7799_7800del , LRG_135t1:c.7799_7800del (ATM)	NP_000042.3:p.Glu2600GlyfsTer4
XM_005271414.3:c.*39-1204_*39-1203del (C11orf65)	XP_005271471.1:n.*39-1204_*39-1203del
XM_005271415.3:c.805-1204_805-1203del (C11orf65)	XP_005271472.1:n.805-1204_805-1203del
XM_005271561.3:c.7799_7800del (ATM)	XP_005271618.2:p.Glu2600GlyfsTer4
XM_005271562.3:c.7799_7800del (ATM)	XP_005271619.2:p.Glu2600GlyfsTer4
XM_006718843.2:c.7799_7800del (ATM)	XP_006718906.1:p.Glu2600GlyfsTer4
XM_006718845.1:c.3755_3756del (ATM)	XP_006718908.1:p.Glu1252GlyfsTer4
XM_011542840.1:c.7799_7800del (ATM)	XP_011541142.1:p.Glu2600GlyfsTer4
XM_011542841.1:c.7799_7800del (ATM)	XP_011541143.1:p.Glu2600GlyfsTer4
XM_011542842.1:c.7634_7635del (ATM)	XP_011541144.1:p.Glu2545GlyfsTer4
XM_011542843.1:c.7799_7800del (ATM)	XP_011541145.1:p.Glu2600GlyfsTer4
XM_011542844.1:c.6755_6756del (ATM)	XP_011541146.1:p.Glu2252GlyfsTer4
XM_011542845.1:c.6491_6492del (ATM)	XP_011541147.1:p.Glu2164GlyfsTer4
XM_011542847.1:c.2870_2871del (ATM)	XP_011541149.1:p.Glu957GlyfsTer4
NM_001330368.1:c.641-23700_641-23699del (C11orf65)	NP_001317297.1:n.641-23700_641-23699del
NM_001351110.1:c.*38+2449_*38+2450del (C11orf65)	NP_001338039.1:n.*38+2449_*38+2450del
NM_001351834.1:c.7799_7800del (ATM)	NP_001338763.1:p.Glu2600GlyfsTer4
NR_147053.2:n.2375-1204_2375-1203del (C11orf65)
XM_005271414.4:c.*39-1204_*39-1203del (C11orf65)	XP_005271471.1:n.*39-1204_*39-1203del
XM_005271415.4:c.805-1204_805-1203del (C11orf65)	XP_005271472.1:n.805-1204_805-1203del
XM_005271562.5:c.7799_7800del (ATM)	XP_005271619.2:p.Glu2600GlyfsTer4
XM_006718843.4:c.7799_7800del (ATM)	XP_006718906.1:p.Glu2600GlyfsTer4
XM_006718845.2:c.3755_3756del (ATM)	XP_006718908.1:p.Glu1252GlyfsTer4
XM_011542840.3:c.7799_7800del (ATM)	XP_011541142.1:p.Glu2600GlyfsTer4
XM_011542842.3:c.7634_7635del (ATM)	XP_011541144.1:p.Glu2545GlyfsTer4
XM_011542843.2:c.7799_7800del (ATM)	XP_011541145.1:p.Glu2600GlyfsTer4
XM_011542844.3:c.6755_6756del (ATM)	XP_011541146.1:p.Glu2252GlyfsTer4
XM_011542845.2:c.6491_6492del (ATM)	XP_011541147.1:p.Glu2164GlyfsTer4
XM_017017789.2:c.7799_7800del (ATM)	XP_016873278.1:p.Glu2600GlyfsTer4
XM_017017790.2:c.7799_7800del (ATM)	XP_016873279.1:p.Glu2600GlyfsTer4
NM_001330368.2:c.641-23700_641-23699del (C11orf65)	NP_001317297.1:n.641-23700_641-23699del
NM_001351110.2:c.*38+2449_*38+2450del (C11orf65)	NP_001338039.1:n.*38+2449_*38+2450del
NM_001351834.2:c.7799_7800del (ATM)	NP_001338763.1:p.Glu2600GlyfsTer4
NM_000051.4:c.7799_7800del (ATM) MANE Select	NP_000042.3:p.Glu2600GlyfsTer4
NR_147053.3:n.2373-1204_2373-1203del (C11orf65)