Canonical Allele Identifier: CA2615860053

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108316250-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316250_108316251insCTG , CM000673.2:g.108316250_108316251insCTG	GRCh38
NC_000011.9:g.108186977_108186978insCTG , CM000673.1:g.108186977_108186978insCTG	GRCh37
NC_000011.8:g.107692187_107692188insCTG	NCBI36
NG_009830.1:g.98419_98420insCTG , LRG_135:g.98419_98420insCTG
NG_054724.1:g.158582_158583insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6198+137_6198+138insCTG (ATM)	ENSP00000388058.2:n.6198+137_6198+138insCTG
ENST00000713593.1:c.*5669+137_*5669+138insCTG (ATM)	ENSP00000518889.1:n.*5669+137_*5669+138insCTG
ENST00000278616.9:c.6198+137_6198+138insCTG (ATM)	ENSP00000278616.4:n.6198+137_6198+138insCTG
ENST00000525056.2:n.617+137_617+138insCTG (ATM)
ENST00000682286.1:n.955+137_955+138insCTG (ATM)
ENST00000682302.1:n.616+137_616+138insCTG (ATM)
ENST00000683174.1:n.7682+137_7682+138insCTG (ATM)
ENST00000683524.1:n.1422+137_1422+138insCTG (ATM)
ENST00000684152.1:n.1912+137_1912+138insCTG (ATM)
ENST00000527805.6:c.*1262+137_*1262+138insCTG (ATM)	ENSP00000435747.2:n.*1262+137_*1262+138insCTG
ENST00000675595.1:c.*1262+137_*1262+138insCTG (ATM)	ENSP00000502563.1:n.*1262+137_*1262+138insCTG
ENST00000675843.1:c.6198+137_6198+138insCTG (ATM) MANE Select	ENSP00000501606.1:n.6198+137_6198+138insCTG
ENST00000278616.8:c.6198+137_6198+138insCTG (ATM)	ENSP00000278616.4:n.6198+137_6198+138insCTG
ENST00000452508.6:c.6198+137_6198+138insCTG (ATM)	ENSP00000388058.2:n.6198+137_6198+138insCTG
ENST00000524792.5:n.2413+137_2413+138insCTG (ATM)
ENST00000525729.5:c.641-7180_641-7179insCAG (C11orf65)	ENSP00000433395.1:n.641-7180_641-7179insCAG
ENST00000532765.1:n.515+137_515+138insCTG (ATM)
ENST00000533690.5:n.1602+137_1602+138insCTG (ATM)
NM_000051.3:c.6198+137_6198+138insCTG , LRG_135t1:c.6198+137_6198+138insCTG (ATM)	NP_000042.3:n.6198+137_6198+138insCTG
XM_005271561.3:c.6198+137_6198+138insCTG (ATM)	XP_005271618.2:n.6198+137_6198+138insCTG
XM_005271562.3:c.6198+137_6198+138insCTG (ATM)	XP_005271619.2:n.6198+137_6198+138insCTG
XM_006718843.2:c.6198+137_6198+138insCTG (ATM)	XP_006718906.1:n.6198+137_6198+138insCTG
XM_006718845.1:c.2154+137_2154+138insCTG (ATM)	XP_006718908.1:n.2154+137_2154+138insCTG
XM_011542840.1:c.6198+137_6198+138insCTG (ATM)	XP_011541142.1:n.6198+137_6198+138insCTG
XM_011542841.1:c.6198+137_6198+138insCTG (ATM)	XP_011541143.1:n.6198+137_6198+138insCTG
XM_011542842.1:c.6033+137_6033+138insCTG (ATM)	XP_011541144.1:n.6033+137_6033+138insCTG
XM_011542843.1:c.6198+137_6198+138insCTG (ATM)	XP_011541145.1:n.6198+137_6198+138insCTG
XM_011542844.1:c.5154+137_5154+138insCTG (ATM)	XP_011541146.1:n.5154+137_5154+138insCTG
XM_011542845.1:c.4890+137_4890+138insCTG (ATM)	XP_011541147.1:n.4890+137_4890+138insCTG
XM_011542847.1:c.1269+137_1269+138insCTG (ATM)	XP_011541149.1:n.1269+137_1269+138insCTG
NM_001330368.1:c.641-7180_641-7179insCAG (C11orf65)	NP_001317297.1:n.641-7180_641-7179insCAG
NM_001351110.1:c.*39-7180_*39-7179insCAG (C11orf65)	NP_001338039.1:n.*39-7180_*39-7179insCAG
NM_001351834.1:c.6198+137_6198+138insCTG (ATM)	NP_001338763.1:n.6198+137_6198+138insCTG
XM_005271562.5:c.6198+137_6198+138insCTG (ATM)	XP_005271619.2:n.6198+137_6198+138insCTG
XM_006718843.4:c.6198+137_6198+138insCTG (ATM)	XP_006718906.1:n.6198+137_6198+138insCTG
XM_006718845.2:c.2154+137_2154+138insCTG (ATM)	XP_006718908.1:n.2154+137_2154+138insCTG
XM_011542840.3:c.6198+137_6198+138insCTG (ATM)	XP_011541142.1:n.6198+137_6198+138insCTG
XM_011542842.3:c.6033+137_6033+138insCTG (ATM)	XP_011541144.1:n.6033+137_6033+138insCTG
XM_011542843.2:c.6198+137_6198+138insCTG (ATM)	XP_011541145.1:n.6198+137_6198+138insCTG
XM_011542844.3:c.5154+137_5154+138insCTG (ATM)	XP_011541146.1:n.5154+137_5154+138insCTG
XM_011542845.2:c.4890+137_4890+138insCTG (ATM)	XP_011541147.1:n.4890+137_4890+138insCTG
XM_017017789.2:c.6198+137_6198+138insCTG (ATM)	XP_016873278.1:n.6198+137_6198+138insCTG
XM_017017790.2:c.6198+137_6198+138insCTG (ATM)	XP_016873279.1:n.6198+137_6198+138insCTG
XM_017017791.1:c.6198+137_6198+138insCTG (ATM)	XP_016873280.1:n.6198+137_6198+138insCTG
NM_001330368.2:c.641-7180_641-7179insCAG (C11orf65)	NP_001317297.1:n.641-7180_641-7179insCAG
NM_001351110.2:c.*39-7180_*39-7179insCAG (C11orf65)	NP_001338039.1:n.*39-7180_*39-7179insCAG
NM_001351834.2:c.6198+137_6198+138insCTG (ATM)	NP_001338763.1:n.6198+137_6198+138insCTG
NM_000051.4:c.6198+137_6198+138insCTG (ATM) MANE Select	NP_000042.3:n.6198+137_6198+138insCTG