Canonical Allele Identifier: CA2695215294

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321320_108321321del , CM000673.2:g.108321320_108321321del	GRCh38
NC_000011.9:g.108192047_108192048del , CM000673.1:g.108192047_108192048del	GRCh37
NC_000011.8:g.107697257_107697258del	NCBI36
NG_009830.1:g.103489_103490del , LRG_135:g.103489_103490del
NG_054724.1:g.153512_153513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6472_6473del (ATM)	ENSP00000388058.2:p.Met2158ValfsTer2
ENST00000713593.1:c.*5943_*5944del (ATM)	ENSP00000518889.1:n.*5943_*5944del
ENST00000278616.9:c.6472_6473del (ATM)	ENSP00000278616.4:p.Met2158ValfsTer2
ENST00000525056.2:n.891_892del (ATM)
ENST00000682286.1:n.1229_1230del (ATM)
ENST00000682302.1:n.890_891del (ATM)
ENST00000683174.1:n.7956_7957del (ATM)
ENST00000683524.1:n.1696_1697del (ATM)
ENST00000684152.1:n.2186_2187del (ATM)
ENST00000527805.6:c.*1536_*1537del (ATM)	ENSP00000435747.2:n.*1536_*1537del
ENST00000675595.1:c.*1607_*1608del (ATM)	ENSP00000502563.1:n.*1607_*1608del
ENST00000675843.1:c.6472_6473del (ATM) MANE Select	ENSP00000501606.1:p.Met2158ValfsTer2
ENST00000278616.8:c.6472_6473del (ATM)	ENSP00000278616.4:p.Met2158ValfsTer2
ENST00000452508.6:c.6472_6473del (ATM)	ENSP00000388058.2:p.Met2158ValfsTer2
ENST00000524792.5:n.2687_2688del (ATM)
ENST00000525729.5:c.641-12250_641-12249del (C11orf65)	ENSP00000433395.1:n.641-12250_641-12249del
ENST00000533690.5:n.1876_1877del (ATM)
NM_000051.3:c.6472_6473del , LRG_135t1:c.6472_6473del (ATM)	NP_000042.3:p.Met2158ValfsTer2
XM_005271561.3:c.6472_6473del (ATM)	XP_005271618.2:p.Met2158ValfsTer2
XM_005271562.3:c.6472_6473del (ATM)	XP_005271619.2:p.Met2158ValfsTer2
XM_006718843.2:c.6472_6473del (ATM)	XP_006718906.1:p.Met2158ValfsTer2
XM_006718845.1:c.2428_2429del (ATM)	XP_006718908.1:p.Met810ValfsTer2
XM_011542840.1:c.6472_6473del (ATM)	XP_011541142.1:p.Met2158ValfsTer2
XM_011542841.1:c.6472_6473del (ATM)	XP_011541143.1:p.Met2158ValfsTer2
XM_011542842.1:c.6307_6308del (ATM)	XP_011541144.1:p.Met2103ValfsTer2
XM_011542843.1:c.6472_6473del (ATM)	XP_011541145.1:p.Met2158ValfsTer2
XM_011542844.1:c.5428_5429del (ATM)	XP_011541146.1:p.Met1810ValfsTer2
XM_011542845.1:c.5164_5165del (ATM)	XP_011541147.1:p.Met1722ValfsTer2
XM_011542847.1:c.1543_1544del (ATM)	XP_011541149.1:p.Met515ValfsTer2
NM_001330368.1:c.641-12250_641-12249del (C11orf65)	NP_001317297.1:n.641-12250_641-12249del
NM_001351110.1:c.*39-12250_*39-12249del (C11orf65)	NP_001338039.1:n.*39-12250_*39-12249del
NM_001351834.1:c.6472_6473del (ATM)	NP_001338763.1:p.Met2158ValfsTer2
XM_005271562.5:c.6472_6473del (ATM)	XP_005271619.2:p.Met2158ValfsTer2
XM_006718843.4:c.6472_6473del (ATM)	XP_006718906.1:p.Met2158ValfsTer2
XM_006718845.2:c.2428_2429del (ATM)	XP_006718908.1:p.Met810ValfsTer2
XM_011542840.3:c.6472_6473del (ATM)	XP_011541142.1:p.Met2158ValfsTer2
XM_011542842.3:c.6307_6308del (ATM)	XP_011541144.1:p.Met2103ValfsTer2
XM_011542843.2:c.6472_6473del (ATM)	XP_011541145.1:p.Met2158ValfsTer2
XM_011542844.3:c.5428_5429del (ATM)	XP_011541146.1:p.Met1810ValfsTer2
XM_011542845.2:c.5164_5165del (ATM)	XP_011541147.1:p.Met1722ValfsTer2
XM_017017789.2:c.6472_6473del (ATM)	XP_016873278.1:p.Met2158ValfsTer2
XM_017017790.2:c.6472_6473del (ATM)	XP_016873279.1:p.Met2158ValfsTer2
NM_001330368.2:c.641-12250_641-12249del (C11orf65)	NP_001317297.1:n.641-12250_641-12249del
NM_001351110.2:c.*39-12250_*39-12249del (C11orf65)	NP_001338039.1:n.*39-12250_*39-12249del
NM_001351834.2:c.6472_6473del (ATM)	NP_001338763.1:p.Met2158ValfsTer2
NM_000051.4:c.6472_6473del (ATM) MANE Select	NP_000042.3:p.Met2158ValfsTer2