Canonical Allele Identifier: CA1998816201

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343499_108343505delinsTAAAAGA , CM000673.2:g.108343499_108343505delinsTAAAAGA	GRCh38
NC_000011.9:g.108214226_108214232delinsTAAAAGA , CM000673.1:g.108214226_108214232delinsTAAAAGA	GRCh37
NC_000011.8:g.107719436_107719442delinsTAAAAGA	NCBI36
NG_009830.1:g.125668_125674delinsTAAAAGA , LRG_135:g.125668_125674delinsTAAAAGA
NG_054724.1:g.131328_131334delinsTCTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8418+128_8418+134delinsTAAAAGA (ATM)	ENSP00000388058.2:n.8418+128_8418+134delinsTAAAAGA
ENST00000713593.1:c.*7889+128_*7889+134delinsTAAAAGA (ATM)	ENSP00000518889.1:n.*7889+128_*7889+134delinsTAAAAGA
ENST00000278616.9:c.8418+128_8418+134delinsTAAAAGA (ATM)	ENSP00000278616.4:n.8418+128_8418+134delinsTAAAAGA
ENST00000638786.2:n.1116+128_1116+134delinsTAAAAGA (ATM)
ENST00000682286.1:n.3175+128_3175+134delinsTAAAAGA (ATM)
ENST00000682302.1:n.2836+128_2836+134delinsTAAAAGA (ATM)
ENST00000683174.1:n.9902+128_9902+134delinsTAAAAGA (ATM)
ENST00000683524.1:n.3642+128_3642+134delinsTAAAAGA (ATM)
ENST00000684152.1:n.3834+128_3834+134delinsTAAAAGA (ATM)
ENST00000684180.1:n.892+128_892+134delinsTAAAAGA (ATM)
ENST00000684447.1:n.4911+128_4911+134delinsTAAAAGA (ATM)
ENST00000527805.6:c.*3482+128_*3482+134delinsTAAAAGA (ATM)	ENSP00000435747.2:n.*3482+128_*3482+134delinsTAAAAGA
ENST00000675595.1:c.*3553+128_*3553+134delinsTAAAAGA (ATM)	ENSP00000502563.1:n.*3553+128_*3553+134delinsTAAAAGA
ENST00000675843.1:c.8418+128_8418+134delinsTAAAAGA (ATM) MANE Select	ENSP00000501606.1:n.8418+128_8418+134delinsTAAAAGA
ENST00000278616.8:c.8418+128_8418+134delinsTAAAAGA (ATM)	ENSP00000278616.4:n.8418+128_8418+134delinsTAAAAGA
ENST00000452508.6:c.8418+128_8418+134delinsTAAAAGA (ATM)	ENSP00000388058.2:n.8418+128_8418+134delinsTAAAAGA
ENST00000524755.5:c.227-8213_227-8207delinsTCTTTTA (C11orf65)
ENST00000524792.5:n.4633+128_4633+134delinsTAAAAGA (ATM)
ENST00000525729.5:c.641-34434_641-34428delinsTCTTTTA (C11orf65)	ENSP00000433395.1:n.641-34434_641-34428delinsTCTTTTA
ENST00000526725.1:n.272-3141_272-3135delinsTCTTTTA (C11orf65)
ENST00000527531.5:c.*1197-8213_*1197-8207delinsTCTTTTA (C11orf65)	ENSP00000431706.1:n.*1197-8213_*1197-8207delinsTCTTTTA
ENST00000615746.4:c.*1197-8213_*1197-8207delinsTCTTTTA (C11orf65)	ENSP00000483537.1:n.*1197-8213_*1197-8207delinsTCTTTTA
NM_000051.3:c.8418+128_8418+134delinsTAAAAGA , LRG_135t1:c.8418+128_8418+134delinsTAAAAGA (ATM)	NP_000042.3:n.8418+128_8418+134delinsTAAAAGA
XM_005271414.3:c.788-8213_788-8207delinsTCTTTTA (C11orf65)	XP_005271471.1:n.788-8213_788-8207delinsTCTTTTA
XM_005271415.3:c.732-8213_732-8207delinsTCTTTTA (C11orf65)	XP_005271472.1:n.732-8213_732-8207delinsTCTTTTA
XM_005271561.3:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_005271618.2:n.8418+128_8418+134delinsTAAAAGA
XM_005271562.3:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_005271619.2:n.8418+128_8418+134delinsTAAAAGA
XM_006718843.2:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_006718906.1:n.8418+128_8418+134delinsTAAAAGA
XM_006718845.1:c.4374+128_4374+134delinsTAAAAGA (ATM)	XP_006718908.1:n.4374+128_4374+134delinsTAAAAGA
XM_011542640.1:c.788-3141_788-3135delinsTCTTTTA (C11orf65)	XP_011540942.1:n.788-3141_788-3135delinsTCTTTTA
XM_011542643.1:c.732-3141_732-3135delinsTCTTTTA (C11orf65)	XP_011540945.1:n.732-3141_732-3135delinsTCTTTTA
XM_011542840.1:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_011541142.1:n.8418+128_8418+134delinsTAAAAGA
XM_011542841.1:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_011541143.1:n.8418+128_8418+134delinsTAAAAGA
XM_011542842.1:c.8253+128_8253+134delinsTAAAAGA (ATM)	XP_011541144.1:n.8253+128_8253+134delinsTAAAAGA
XM_011542843.1:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_011541145.1:n.8418+128_8418+134delinsTAAAAGA
XM_011542844.1:c.7374+128_7374+134delinsTAAAAGA (ATM)	XP_011541146.1:n.7374+128_7374+134delinsTAAAAGA
XM_011542845.1:c.7110+128_7110+134delinsTAAAAGA (ATM)	XP_011541147.1:n.7110+128_7110+134delinsTAAAAGA
XM_011542847.1:c.3489+128_3489+134delinsTAAAAGA (ATM)	XP_011541149.1:n.3489+128_3489+134delinsTAAAAGA
NM_001330368.1:c.641-34434_641-34428delinsTCTTTTA (C11orf65)	NP_001317297.1:n.641-34434_641-34428delinsTCTTTTA
NM_001351110.1:c.695-8213_695-8207delinsTCTTTTA (C11orf65)	NP_001338039.1:n.695-8213_695-8207delinsTCTTTTA
NM_001351834.1:c.8418+128_8418+134delinsTAAAAGA (ATM)	NP_001338763.1:n.8418+128_8418+134delinsTAAAAGA
NR_147053.2:n.2302-8213_2302-8207delinsTCTTTTA (C11orf65)
XM_005271414.4:c.788-8213_788-8207delinsTCTTTTA (C11orf65)	XP_005271471.1:n.788-8213_788-8207delinsTCTTTTA
XM_005271415.4:c.732-8213_732-8207delinsTCTTTTA (C11orf65)	XP_005271472.1:n.732-8213_732-8207delinsTCTTTTA
XM_005271562.5:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_005271619.2:n.8418+128_8418+134delinsTAAAAGA
XM_006718843.4:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_006718906.1:n.8418+128_8418+134delinsTAAAAGA
XM_006718845.2:c.4374+128_4374+134delinsTAAAAGA (ATM)	XP_006718908.1:n.4374+128_4374+134delinsTAAAAGA
XM_011542640.2:c.788-3141_788-3135delinsTCTTTTA (C11orf65)	XP_011540942.1:n.788-3141_788-3135delinsTCTTTTA
XM_011542643.2:c.732-3141_732-3135delinsTCTTTTA (C11orf65)	XP_011540945.1:n.732-3141_732-3135delinsTCTTTTA
XM_011542840.3:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_011541142.1:n.8418+128_8418+134delinsTAAAAGA
XM_011542842.3:c.8253+128_8253+134delinsTAAAAGA (ATM)	XP_011541144.1:n.8253+128_8253+134delinsTAAAAGA
XM_011542843.2:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_011541145.1:n.8418+128_8418+134delinsTAAAAGA
XM_011542844.3:c.7374+128_7374+134delinsTAAAAGA (ATM)	XP_011541146.1:n.7374+128_7374+134delinsTAAAAGA
XM_011542845.2:c.7110+128_7110+134delinsTAAAAGA (ATM)	XP_011541147.1:n.7110+128_7110+134delinsTAAAAGA
XM_017017247.1:c.904-3141_904-3135delinsTCTTTTA (C11orf65)	XP_016872736.1:n.904-3141_904-3135delinsTCTTTTA
XM_017017789.2:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_016873278.1:n.8418+128_8418+134delinsTAAAAGA
XM_017017790.2:c.8418+128_8418+134delinsTAAAAGA (ATM)	XP_016873279.1:n.8418+128_8418+134delinsTAAAAGA
NM_001330368.2:c.641-34434_641-34428delinsTCTTTTA (C11orf65)	NP_001317297.1:n.641-34434_641-34428delinsTCTTTTA
NM_001351110.2:c.695-8213_695-8207delinsTCTTTTA (C11orf65)	NP_001338039.1:n.695-8213_695-8207delinsTCTTTTA
NM_001351834.2:c.8418+128_8418+134delinsTAAAAGA (ATM)	NP_001338763.1:n.8418+128_8418+134delinsTAAAAGA
NM_000051.4:c.8418+128_8418+134delinsTAAAAGA (ATM) MANE Select	NP_000042.3:n.8418+128_8418+134delinsTAAAAGA
NR_147053.3:n.2300-8213_2300-8207delinsTCTTTTA (C11orf65)