Canonical Allele Identifier: CA942023119

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2085215535
• gnomAD v3: 11-108321490-TAAAAACTATAG-T
• gnomAD v4: 11-108321490-TAAAAACTATAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321491_108321501del , CM000673.2:g.108321491_108321501del	GRCh38
NC_000011.9:g.108192218_108192228del , CM000673.1:g.108192218_108192228del	GRCh37
NC_000011.8:g.107697428_107697438del	NCBI36
NG_009830.1:g.103660_103670del , LRG_135:g.103660_103670del
NG_054724.1:g.153332_153342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6572+71_6572+81del (ATM)	ENSP00000388058.2:n.6572+71_6572+81del
ENST00000713593.1:c.*6043+71_*6043+81del (ATM)	ENSP00000518889.1:n.*6043+71_*6043+81del
ENST00000278616.9:c.6572+71_6572+81del (ATM)	ENSP00000278616.4:n.6572+71_6572+81del
ENST00000525056.2:n.991+71_991+81del (ATM)
ENST00000682286.1:n.1329+71_1329+81del (ATM)
ENST00000682302.1:n.990+71_990+81del (ATM)
ENST00000683174.1:n.8056+71_8056+81del (ATM)
ENST00000683524.1:n.1796+71_1796+81del (ATM)
ENST00000684152.1:n.2286+71_2286+81del (ATM)
ENST00000527805.6:c.*1636+71_*1636+81del (ATM)	ENSP00000435747.2:n.*1636+71_*1636+81del
ENST00000675595.1:c.*1707+71_*1707+81del (ATM)	ENSP00000502563.1:n.*1707+71_*1707+81del
ENST00000675843.1:c.6572+71_6572+81del (ATM) MANE Select	ENSP00000501606.1:n.6572+71_6572+81del
ENST00000278616.8:c.6572+71_6572+81del (ATM)	ENSP00000278616.4:n.6572+71_6572+81del
ENST00000452508.6:c.6572+71_6572+81del (ATM)	ENSP00000388058.2:n.6572+71_6572+81del
ENST00000524792.5:n.2787+71_2787+81del (ATM)
ENST00000525729.5:c.641-12430_641-12420del (C11orf65)	ENSP00000433395.1:n.641-12430_641-12420del
ENST00000533690.5:n.1976+71_1976+81del (ATM)
NM_000051.3:c.6572+71_6572+81del , LRG_135t1:c.6572+71_6572+81del (ATM)	NP_000042.3:n.6572+71_6572+81del
XM_005271561.3:c.6572+71_6572+81del (ATM)	XP_005271618.2:n.6572+71_6572+81del
XM_005271562.3:c.6572+71_6572+81del (ATM)	XP_005271619.2:n.6572+71_6572+81del
XM_006718843.2:c.6572+71_6572+81del (ATM)	XP_006718906.1:n.6572+71_6572+81del
XM_006718845.1:c.2528+71_2528+81del (ATM)	XP_006718908.1:n.2528+71_2528+81del
XM_011542840.1:c.6572+71_6572+81del (ATM)	XP_011541142.1:n.6572+71_6572+81del
XM_011542841.1:c.6572+71_6572+81del (ATM)	XP_011541143.1:n.6572+71_6572+81del
XM_011542842.1:c.6407+71_6407+81del (ATM)	XP_011541144.1:n.6407+71_6407+81del
XM_011542843.1:c.6572+71_6572+81del (ATM)	XP_011541145.1:n.6572+71_6572+81del
XM_011542844.1:c.5528+71_5528+81del (ATM)	XP_011541146.1:n.5528+71_5528+81del
XM_011542845.1:c.5264+71_5264+81del (ATM)	XP_011541147.1:n.5264+71_5264+81del
XM_011542847.1:c.1643+71_1643+81del (ATM)	XP_011541149.1:n.1643+71_1643+81del
NM_001330368.1:c.641-12430_641-12420del (C11orf65)	NP_001317297.1:n.641-12430_641-12420del
NM_001351110.1:c.*39-12430_*39-12420del (C11orf65)	NP_001338039.1:n.*39-12430_*39-12420del
NM_001351834.1:c.6572+71_6572+81del (ATM)	NP_001338763.1:n.6572+71_6572+81del
XM_005271562.5:c.6572+71_6572+81del (ATM)	XP_005271619.2:n.6572+71_6572+81del
XM_006718843.4:c.6572+71_6572+81del (ATM)	XP_006718906.1:n.6572+71_6572+81del
XM_006718845.2:c.2528+71_2528+81del (ATM)	XP_006718908.1:n.2528+71_2528+81del
XM_011542840.3:c.6572+71_6572+81del (ATM)	XP_011541142.1:n.6572+71_6572+81del
XM_011542842.3:c.6407+71_6407+81del (ATM)	XP_011541144.1:n.6407+71_6407+81del
XM_011542843.2:c.6572+71_6572+81del (ATM)	XP_011541145.1:n.6572+71_6572+81del
XM_011542844.3:c.5528+71_5528+81del (ATM)	XP_011541146.1:n.5528+71_5528+81del
XM_011542845.2:c.5264+71_5264+81del (ATM)	XP_011541147.1:n.5264+71_5264+81del
XM_017017789.2:c.6572+71_6572+81del (ATM)	XP_016873278.1:n.6572+71_6572+81del
XM_017017790.2:c.6572+71_6572+81del (ATM)	XP_016873279.1:n.6572+71_6572+81del
NM_001330368.2:c.641-12430_641-12420del (C11orf65)	NP_001317297.1:n.641-12430_641-12420del
NM_001351110.2:c.*39-12430_*39-12420del (C11orf65)	NP_001338039.1:n.*39-12430_*39-12420del
NM_001351834.2:c.6572+71_6572+81del (ATM)	NP_001338763.1:n.6572+71_6572+81del
NM_000051.4:c.6572+71_6572+81del (ATM) MANE Select	NP_000042.3:n.6572+71_6572+81del