Canonical Allele Identifier: CA601724677

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1088914
• ClinVar RCV Id: RCV001407566
• dbSNP Id: rs1451367847
• gnomAD v2: 11-108186848-TTTTC-T
• MyVariant Identifiers: chr11:g.108186849_108186852del (hg19) ; chr11:g.108316122_108316125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316122_108316125del , CM000673.2:g.108316122_108316125del	GRCh38
NC_000011.9:g.108186849_108186852del , CM000673.1:g.108186849_108186852del	GRCh37
NC_000011.8:g.107692059_107692062del	NCBI36
NG_009830.1:g.98291_98294del , LRG_135:g.98291_98294del
NG_054724.1:g.158708_158711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6198+9_6198+12del (ATM)	ENSP00000388058.2:n.6198+9_6198+12del
ENST00000713593.1:c.*5669+9_*5669+12del (ATM)	ENSP00000518889.1:n.*5669+9_*5669+12del
ENST00000278616.9:c.6198+9_6198+12del (ATM)	ENSP00000278616.4:n.6198+9_6198+12del
ENST00000525056.2:n.617+9_617+12del (ATM)
ENST00000682286.1:n.955+9_955+12del (ATM)
ENST00000682302.1:n.616+9_616+12del (ATM)
ENST00000683174.1:n.7682+9_7682+12del (ATM)
ENST00000683524.1:n.1422+9_1422+12del (ATM)
ENST00000684152.1:n.1912+9_1912+12del (ATM)
ENST00000527805.6:c.*1262+9_*1262+12del (ATM)	ENSP00000435747.2:n.*1262+9_*1262+12del
ENST00000675595.1:c.*1262+9_*1262+12del (ATM)	ENSP00000502563.1:n.*1262+9_*1262+12del
ENST00000675843.1:c.6198+9_6198+12del (ATM) MANE Select	ENSP00000501606.1:n.6198+9_6198+12del
ENST00000278616.8:c.6198+9_6198+12del (ATM)	ENSP00000278616.4:n.6198+9_6198+12del
ENST00000452508.6:c.6198+9_6198+12del (ATM)	ENSP00000388058.2:n.6198+9_6198+12del
ENST00000524792.5:n.2413+9_2413+12del (ATM)
ENST00000525729.5:c.641-7054_641-7051del (C11orf65)	ENSP00000433395.1:n.641-7054_641-7051del
ENST00000532765.1:n.515+9_515+12del (ATM)
ENST00000533690.5:n.1602+9_1602+12del (ATM)
NM_000051.3:c.6198+9_6198+12del , LRG_135t1:c.6198+9_6198+12del (ATM)	NP_000042.3:n.6198+9_6198+12del
XM_005271561.3:c.6198+9_6198+12del (ATM)	XP_005271618.2:n.6198+9_6198+12del
XM_005271562.3:c.6198+9_6198+12del (ATM)	XP_005271619.2:n.6198+9_6198+12del
XM_006718843.2:c.6198+9_6198+12del (ATM)	XP_006718906.1:n.6198+9_6198+12del
XM_006718845.1:c.2154+9_2154+12del (ATM)	XP_006718908.1:n.2154+9_2154+12del
XM_011542840.1:c.6198+9_6198+12del (ATM)	XP_011541142.1:n.6198+9_6198+12del
XM_011542841.1:c.6198+9_6198+12del (ATM)	XP_011541143.1:n.6198+9_6198+12del
XM_011542842.1:c.6033+9_6033+12del (ATM)	XP_011541144.1:n.6033+9_6033+12del
XM_011542843.1:c.6198+9_6198+12del (ATM)	XP_011541145.1:n.6198+9_6198+12del
XM_011542844.1:c.5154+9_5154+12del (ATM)	XP_011541146.1:n.5154+9_5154+12del
XM_011542845.1:c.4890+9_4890+12del (ATM)	XP_011541147.1:n.4890+9_4890+12del
XM_011542847.1:c.1269+9_1269+12del (ATM)	XP_011541149.1:n.1269+9_1269+12del
NM_001330368.1:c.641-7054_641-7051del (C11orf65)	NP_001317297.1:n.641-7054_641-7051del
NM_001351110.1:c.*39-7054_*39-7051del (C11orf65)	NP_001338039.1:n.*39-7054_*39-7051del
NM_001351834.1:c.6198+9_6198+12del (ATM)	NP_001338763.1:n.6198+9_6198+12del
XM_005271562.5:c.6198+9_6198+12del (ATM)	XP_005271619.2:n.6198+9_6198+12del
XM_006718843.4:c.6198+9_6198+12del (ATM)	XP_006718906.1:n.6198+9_6198+12del
XM_006718845.2:c.2154+9_2154+12del (ATM)	XP_006718908.1:n.2154+9_2154+12del
XM_011542840.3:c.6198+9_6198+12del (ATM)	XP_011541142.1:n.6198+9_6198+12del
XM_011542842.3:c.6033+9_6033+12del (ATM)	XP_011541144.1:n.6033+9_6033+12del
XM_011542843.2:c.6198+9_6198+12del (ATM)	XP_011541145.1:n.6198+9_6198+12del
XM_011542844.3:c.5154+9_5154+12del (ATM)	XP_011541146.1:n.5154+9_5154+12del
XM_011542845.2:c.4890+9_4890+12del (ATM)	XP_011541147.1:n.4890+9_4890+12del
XM_017017789.2:c.6198+9_6198+12del (ATM)	XP_016873278.1:n.6198+9_6198+12del
XM_017017790.2:c.6198+9_6198+12del (ATM)	XP_016873279.1:n.6198+9_6198+12del
XM_017017791.1:c.6198+9_6198+12del (ATM)	XP_016873280.1:n.6198+9_6198+12del
NM_001330368.2:c.641-7054_641-7051del (C11orf65)	NP_001317297.1:n.641-7054_641-7051del
NM_001351110.2:c.*39-7054_*39-7051del (C11orf65)	NP_001338039.1:n.*39-7054_*39-7051del
NM_001351834.2:c.6198+9_6198+12del (ATM)	NP_001338763.1:n.6198+9_6198+12del
NM_000051.4:c.6198+9_6198+12del (ATM) MANE Select	NP_000042.3:n.6198+9_6198+12del