Canonical Allele Identifier: CA2739266027

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2860768
• ClinVar RCV Id: RCV003605423

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321284_108321285del , CM000673.2:g.108321284_108321285del	GRCh38
NC_000011.9:g.108192011_108192012del , CM000673.1:g.108192011_108192012del	GRCh37
NC_000011.8:g.107697221_107697222del	NCBI36
NG_009830.1:g.103453_103454del , LRG_135:g.103453_103454del
NG_054724.1:g.153550_153551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6453-17_6453-16del (ATM)	ENSP00000388058.2:n.6453-17_6453-16del
ENST00000713593.1:c.*5924-17_*5924-16del (ATM)	ENSP00000518889.1:n.*5924-17_*5924-16del
ENST00000278616.9:c.6453-17_6453-16del (ATM)	ENSP00000278616.4:n.6453-17_6453-16del
ENST00000525056.2:n.872-17_872-16del (ATM)
ENST00000682286.1:n.1210-17_1210-16del (ATM)
ENST00000682302.1:n.871-17_871-16del (ATM)
ENST00000683174.1:n.7937-17_7937-16del (ATM)
ENST00000683524.1:n.1677-17_1677-16del (ATM)
ENST00000684152.1:n.2167-17_2167-16del (ATM)
ENST00000527805.6:c.*1517-17_*1517-16del (ATM)	ENSP00000435747.2:n.*1517-17_*1517-16del
ENST00000675595.1:c.*1588-17_*1588-16del (ATM)	ENSP00000502563.1:n.*1588-17_*1588-16del
ENST00000675843.1:c.6453-17_6453-16del (ATM) MANE Select	ENSP00000501606.1:n.6453-17_6453-16del
ENST00000278616.8:c.6453-17_6453-16del (ATM)	ENSP00000278616.4:n.6453-17_6453-16del
ENST00000452508.6:c.6453-17_6453-16del (ATM)	ENSP00000388058.2:n.6453-17_6453-16del
ENST00000524792.5:n.2668-17_2668-16del (ATM)
ENST00000525729.5:c.641-12212_641-12211del (C11orf65)	ENSP00000433395.1:n.641-12212_641-12211del
ENST00000533690.5:n.1857-17_1857-16del (ATM)
NM_000051.3:c.6453-17_6453-16del , LRG_135t1:c.6453-17_6453-16del (ATM)	NP_000042.3:n.6453-17_6453-16del
XM_005271561.3:c.6453-17_6453-16del (ATM)	XP_005271618.2:n.6453-17_6453-16del
XM_005271562.3:c.6453-17_6453-16del (ATM)	XP_005271619.2:n.6453-17_6453-16del
XM_006718843.2:c.6453-17_6453-16del (ATM)	XP_006718906.1:n.6453-17_6453-16del
XM_006718845.1:c.2409-17_2409-16del (ATM)	XP_006718908.1:n.2409-17_2409-16del
XM_011542840.1:c.6453-17_6453-16del (ATM)	XP_011541142.1:n.6453-17_6453-16del
XM_011542841.1:c.6453-17_6453-16del (ATM)	XP_011541143.1:n.6453-17_6453-16del
XM_011542842.1:c.6288-17_6288-16del (ATM)	XP_011541144.1:n.6288-17_6288-16del
XM_011542843.1:c.6453-17_6453-16del (ATM)	XP_011541145.1:n.6453-17_6453-16del
XM_011542844.1:c.5409-17_5409-16del (ATM)	XP_011541146.1:n.5409-17_5409-16del
XM_011542845.1:c.5145-17_5145-16del (ATM)	XP_011541147.1:n.5145-17_5145-16del
XM_011542847.1:c.1524-17_1524-16del (ATM)	XP_011541149.1:n.1524-17_1524-16del
NM_001330368.1:c.641-12212_641-12211del (C11orf65)	NP_001317297.1:n.641-12212_641-12211del
NM_001351110.1:c.*39-12212_*39-12211del (C11orf65)	NP_001338039.1:n.*39-12212_*39-12211del
NM_001351834.1:c.6453-17_6453-16del (ATM)	NP_001338763.1:n.6453-17_6453-16del
XM_005271562.5:c.6453-17_6453-16del (ATM)	XP_005271619.2:n.6453-17_6453-16del
XM_006718843.4:c.6453-17_6453-16del (ATM)	XP_006718906.1:n.6453-17_6453-16del
XM_006718845.2:c.2409-17_2409-16del (ATM)	XP_006718908.1:n.2409-17_2409-16del
XM_011542840.3:c.6453-17_6453-16del (ATM)	XP_011541142.1:n.6453-17_6453-16del
XM_011542842.3:c.6288-17_6288-16del (ATM)	XP_011541144.1:n.6288-17_6288-16del
XM_011542843.2:c.6453-17_6453-16del (ATM)	XP_011541145.1:n.6453-17_6453-16del
XM_011542844.3:c.5409-17_5409-16del (ATM)	XP_011541146.1:n.5409-17_5409-16del
XM_011542845.2:c.5145-17_5145-16del (ATM)	XP_011541147.1:n.5145-17_5145-16del
XM_017017789.2:c.6453-17_6453-16del (ATM)	XP_016873278.1:n.6453-17_6453-16del
XM_017017790.2:c.6453-17_6453-16del (ATM)	XP_016873279.1:n.6453-17_6453-16del
XM_017017791.1:c.6461_6462del (ATM)	XP_016873280.1:p.Phe2154SerfsTer7
NM_001330368.2:c.641-12212_641-12211del (C11orf65)	NP_001317297.1:n.641-12212_641-12211del
NM_001351110.2:c.*39-12212_*39-12211del (C11orf65)	NP_001338039.1:n.*39-12212_*39-12211del
NM_001351834.2:c.6453-17_6453-16del (ATM)	NP_001338763.1:n.6453-17_6453-16del
NM_000051.4:c.6453-17_6453-16del (ATM) MANE Select	NP_000042.3:n.6453-17_6453-16del