Canonical Allele Identifier: CA2793553142

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108309111_108309112insCC , CM000673.2:g.108309111_108309112insCC	GRCh38
NC_000011.9:g.108179838_108179839insCC , CM000673.1:g.108179838_108179839insCC	GRCh37
NC_000011.8:g.107685048_107685049insCC	NCBI36
NG_009830.1:g.91280_91281insCC , LRG_135:g.91280_91281insCC
NG_054724.1:g.165721_165722insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5763-1049_5763-1048insCC (ATM)	ENSP00000388058.2:n.5763-1049_5763-1048insCC
ENST00000713593.1:c.*5234-1049_*5234-1048insCC (ATM)	ENSP00000518889.1:n.*5234-1049_*5234-1048insCC
ENST00000278616.9:c.5763-1049_5763-1048insCC (ATM)	ENSP00000278616.4:n.5763-1049_5763-1048insCC
ENST00000525056.2:n.182-1049_182-1048insCC (ATM)
ENST00000682286.1:n.520-1049_520-1048insCC (ATM)
ENST00000682302.1:n.181-1049_181-1048insCC (ATM)
ENST00000683174.1:n.7247-1049_7247-1048insCC (ATM)
ENST00000683524.1:n.987-1049_987-1048insCC (ATM)
ENST00000684152.1:n.1477-1049_1477-1048insCC (ATM)
ENST00000527805.6:c.*827-1049_*827-1048insCC (ATM)	ENSP00000435747.2:n.*827-1049_*827-1048insCC
ENST00000675595.1:c.*827-1049_*827-1048insCC (ATM)	ENSP00000502563.1:n.*827-1049_*827-1048insCC
ENST00000675843.1:c.5763-1049_5763-1048insCC (ATM) MANE Select	ENSP00000501606.1:n.5763-1049_5763-1048insCC
ENST00000278616.8:c.5763-1049_5763-1048insCC (ATM)	ENSP00000278616.4:n.5763-1049_5763-1048insCC
ENST00000452508.6:c.5763-1049_5763-1048insCC (ATM)	ENSP00000388058.2:n.5763-1049_5763-1048insCC
ENST00000524792.5:n.1978-1049_1978-1048insCC (ATM)
ENST00000525729.5:c.641-41_641-40insGG (C11orf65)	ENSP00000433395.1:n.641-41_641-40insGG
ENST00000529588.5:c.187-1049_187-1048insCC (ATM)
ENST00000532765.1:n.79+1041_79+1042insCC (ATM)
ENST00000533690.5:n.1167-1049_1167-1048insCC (ATM)
NM_000051.3:c.5763-1049_5763-1048insCC , LRG_135t1:c.5763-1049_5763-1048insCC (ATM)	NP_000042.3:n.5763-1049_5763-1048insCC
XM_005271561.3:c.5763-1049_5763-1048insCC (ATM)	XP_005271618.2:n.5763-1049_5763-1048insCC
XM_005271562.3:c.5763-1049_5763-1048insCC (ATM)	XP_005271619.2:n.5763-1049_5763-1048insCC
XM_006718843.2:c.5763-1049_5763-1048insCC (ATM)	XP_006718906.1:n.5763-1049_5763-1048insCC
XM_006718845.1:c.1719-1049_1719-1048insCC (ATM)	XP_006718908.1:n.1719-1049_1719-1048insCC
XM_011542840.1:c.5763-1049_5763-1048insCC (ATM)	XP_011541142.1:n.5763-1049_5763-1048insCC
XM_011542841.1:c.5763-1049_5763-1048insCC (ATM)	XP_011541143.1:n.5763-1049_5763-1048insCC
XM_011542842.1:c.5598-1049_5598-1048insCC (ATM)	XP_011541144.1:n.5598-1049_5598-1048insCC
XM_011542843.1:c.5763-1049_5763-1048insCC (ATM)	XP_011541145.1:n.5763-1049_5763-1048insCC
XM_011542844.1:c.4719-1049_4719-1048insCC (ATM)	XP_011541146.1:n.4719-1049_4719-1048insCC
XM_011542845.1:c.4455-1049_4455-1048insCC (ATM)	XP_011541147.1:n.4455-1049_4455-1048insCC
XM_011542847.1:c.834-1049_834-1048insCC (ATM)	XP_011541149.1:n.834-1049_834-1048insCC
NM_001330368.1:c.641-41_641-40insGG (C11orf65)	NP_001317297.1:n.641-41_641-40insGG
NM_001351110.1:c.*39-41_*39-40insGG (C11orf65)	NP_001338039.1:n.*39-41_*39-40insGG
NM_001351834.1:c.5763-1049_5763-1048insCC (ATM)	NP_001338763.1:n.5763-1049_5763-1048insCC
XM_005271562.5:c.5763-1049_5763-1048insCC (ATM)	XP_005271619.2:n.5763-1049_5763-1048insCC
XM_006718843.4:c.5763-1049_5763-1048insCC (ATM)	XP_006718906.1:n.5763-1049_5763-1048insCC
XM_006718845.2:c.1719-1049_1719-1048insCC (ATM)	XP_006718908.1:n.1719-1049_1719-1048insCC
XM_011542840.3:c.5763-1049_5763-1048insCC (ATM)	XP_011541142.1:n.5763-1049_5763-1048insCC
XM_011542842.3:c.5598-1049_5598-1048insCC (ATM)	XP_011541144.1:n.5598-1049_5598-1048insCC
XM_011542843.2:c.5763-1049_5763-1048insCC (ATM)	XP_011541145.1:n.5763-1049_5763-1048insCC
XM_011542844.3:c.4719-1049_4719-1048insCC (ATM)	XP_011541146.1:n.4719-1049_4719-1048insCC
XM_011542845.2:c.4455-1049_4455-1048insCC (ATM)	XP_011541147.1:n.4455-1049_4455-1048insCC
XM_017017789.2:c.5763-1049_5763-1048insCC (ATM)	XP_016873278.1:n.5763-1049_5763-1048insCC
XM_017017790.2:c.5763-1049_5763-1048insCC (ATM)	XP_016873279.1:n.5763-1049_5763-1048insCC
XM_017017791.1:c.5763-1049_5763-1048insCC (ATM)	XP_016873280.1:n.5763-1049_5763-1048insCC
XR_002957150.1:n.6363-1049_6363-1048insCC (ATM)
NM_001330368.2:c.641-41_641-40insGG (C11orf65)	NP_001317297.1:n.641-41_641-40insGG
NM_001351110.2:c.*39-41_*39-40insGG (C11orf65)	NP_001338039.1:n.*39-41_*39-40insGG
NM_001351834.2:c.5763-1049_5763-1048insCC (ATM)	NP_001338763.1:n.5763-1049_5763-1048insCC
NM_000051.4:c.5763-1049_5763-1048insCC (ATM) MANE Select	NP_000042.3:n.5763-1049_5763-1048insCC