Canonical Allele Identifier: CA2615864387

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108365460-CCCCAAAAATCTCAGCCGACTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108365465_108365487del , CM000673.2:g.108365465_108365487del	GRCh38
NC_000011.9:g.108236192_108236214del , CM000673.1:g.108236192_108236214del	GRCh37
NC_000011.8:g.107741402_107741424del	NCBI36
NG_009830.1:g.147634_147656del , LRG_135:g.147634_147656del
NG_054724.1:g.109350_109372del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.9128_9150del (ATM)	ENSP00000388058.2:p.Lys3043ArgfsTer12
ENST00000713593.1:c.*8599_*8621del (ATM)	ENSP00000518889.1:n.*8599_*8621del
ENST00000278616.9:c.9128_9150del (ATM)	ENSP00000278616.4:p.Lys3043ArgfsTer12
ENST00000638786.2:n.1826_1848del (ATM)
ENST00000682286.1:n.3885_3907del (ATM)
ENST00000682302.1:n.3546_3568del (ATM)
ENST00000682569.1:n.2475_2497del (ATM)
ENST00000683174.1:n.10612_10634del (ATM)
ENST00000683524.1:n.4352_4374del (ATM)
ENST00000684152.1:n.4544_4566del (ATM)
ENST00000684180.1:n.1602_1624del (ATM)
ENST00000684447.1:n.5621_5643del (ATM)
ENST00000527805.6:c.*4192_*4214del (ATM)	ENSP00000435747.2:n.*4192_*4214del
ENST00000675595.1:c.*4263_*4285del (ATM)	ENSP00000502563.1:n.*4263_*4285del
ENST00000675843.1:c.9128_9150del (ATM) MANE Select	ENSP00000501606.1:p.Lys3043ArgfsTer12
ENST00000278616.8:c.9128_9150del (ATM)	ENSP00000278616.4:p.Lys3043ArgfsTer12
ENST00000452508.6:c.9128_9150del (ATM)	ENSP00000388058.2:p.Lys3043ArgfsTer12
ENST00000524755.5:c.226+27725_226+27747del (C11orf65)
ENST00000524792.5:n.5343_5365del (ATM)
ENST00000525178.5:n.616_638del (ATM)
ENST00000525729.5:c.640+20437_640+20459del (C11orf65)	ENSP00000433395.1:n.640+20437_640+20459del
ENST00000526725.1:n.272-25119_272-25097del (C11orf65)
ENST00000527181.1:n.467_489del (ATM)
ENST00000527531.5:c.*2-9374_*2-9352del (C11orf65)	ENSP00000431706.1:n.*2-9374_*2-9352del
ENST00000615746.4:c.*2-9374_*2-9352del (C11orf65)	ENSP00000483537.1:n.*2-9374_*2-9352del
NM_000051.3:c.9128_9150del , LRG_135t1:c.9128_9150del (ATM)	NP_000042.3:p.Lys3043ArgfsTer12
XM_005271414.3:c.787+20437_787+20459del (C11orf65)	XP_005271471.1:n.787+20437_787+20459del
XM_005271415.3:c.731+27725_731+27747del (C11orf65)	XP_005271472.1:n.731+27725_731+27747del
XM_005271561.3:c.9128_9150del (ATM)	XP_005271618.2:p.Lys3043ArgfsTer12
XM_005271562.3:c.9128_9150del (ATM)	XP_005271619.2:p.Lys3043ArgfsTer12
XM_006718843.2:c.9128_9150del (ATM)	XP_006718906.1:p.Lys3043ArgfsTer12
XM_006718845.1:c.5084_5106del (ATM)	XP_006718908.1:p.Lys1695ArgfsTer12
XM_011542640.1:c.787+20437_787+20459del (C11orf65)	XP_011540942.1:n.787+20437_787+20459del
XM_011542642.1:c.732-16410_732-16388del (C11orf65)	XP_011540944.1:n.732-16410_732-16388del
XM_011542643.1:c.732-25119_732-25097del (C11orf65)	XP_011540945.1:n.732-25119_732-25097del
XM_011542840.1:c.9128_9150del (ATM)	XP_011541142.1:p.Lys3043ArgfsTer12
XM_011542841.1:c.9128_9150del (ATM)	XP_011541143.1:p.Lys3043ArgfsTer12
XM_011542842.1:c.8963_8985del (ATM)	XP_011541144.1:p.Lys2988ArgfsTer12
XM_011542844.1:c.8084_8106del (ATM)	XP_011541146.1:p.Lys2695ArgfsTer12
XM_011542845.1:c.7820_7842del (ATM)	XP_011541147.1:p.Lys2607ArgfsTer12
XM_011542847.1:c.4199_4221del (ATM)	XP_011541149.1:p.Lys1400ArgfsTer12
NM_001330368.1:c.640+20437_640+20459del (C11orf65)	NP_001317297.1:n.640+20437_640+20459del
NM_001351110.1:c.694+20437_694+20459del (C11orf65)	NP_001338039.1:n.694+20437_694+20459del
NM_001351834.1:c.9128_9150del (ATM)	NP_001338763.1:p.Lys3043ArgfsTer12
NR_147053.2:n.1107-9374_1107-9352del (C11orf65)
XM_005271414.4:c.787+20437_787+20459del (C11orf65)	XP_005271471.1:n.787+20437_787+20459del
XM_005271415.4:c.731+27725_731+27747del (C11orf65)	XP_005271472.1:n.731+27725_731+27747del
XM_005271562.5:c.9128_9150del (ATM)	XP_005271619.2:p.Lys3043ArgfsTer12
XM_006718843.4:c.9128_9150del (ATM)	XP_006718906.1:p.Lys3043ArgfsTer12
XM_006718845.2:c.5084_5106del (ATM)	XP_006718908.1:p.Lys1695ArgfsTer12
XM_011542640.2:c.787+20437_787+20459del (C11orf65)	XP_011540942.1:n.787+20437_787+20459del
XM_011542643.2:c.732-25119_732-25097del (C11orf65)	XP_011540945.1:n.732-25119_732-25097del
XM_011542840.3:c.9128_9150del (ATM)	XP_011541142.1:p.Lys3043ArgfsTer12
XM_011542842.3:c.8963_8985del (ATM)	XP_011541144.1:p.Lys2988ArgfsTer12
XM_011542844.3:c.8084_8106del (ATM)	XP_011541146.1:p.Lys2695ArgfsTer12
XM_011542845.2:c.7820_7842del (ATM)	XP_011541147.1:p.Lys2607ArgfsTer12
XM_017017247.1:c.903+17577_903+17599del (C11orf65)	XP_016872736.1:n.903+17577_903+17599del
XM_017017789.2:c.9128_9150del (ATM)	XP_016873278.1:p.Lys3043ArgfsTer12
XM_017017790.2:c.9128_9150del (ATM)	XP_016873279.1:p.Lys3043ArgfsTer12
NM_001330368.2:c.640+20437_640+20459del (C11orf65)	NP_001317297.1:n.640+20437_640+20459del
NM_001351110.2:c.694+20437_694+20459del (C11orf65)	NP_001338039.1:n.694+20437_694+20459del
NM_001351834.2:c.9128_9150del (ATM)	NP_001338763.1:p.Lys3043ArgfsTer12
NM_000051.4:c.9128_9150del (ATM) MANE Select	NP_000042.3:p.Lys3043ArgfsTer12
NR_147053.3:n.1105-9374_1105-9352del (C11orf65)