Canonical Allele Identifier: CA1998800641

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315828_108315829delinsTC , CM000673.2:g.108315828_108315829delinsTC	GRCh38
NC_000011.9:g.108186555_108186556delinsTC , CM000673.1:g.108186555_108186556delinsTC	GRCh37
NC_000011.8:g.107691765_107691766delinsTC	NCBI36
NG_009830.1:g.97997_97998delinsTC , LRG_135:g.97997_97998delinsTC
NG_054724.1:g.159004_159005delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6012_6013delinsTC (ATM)	ENSP00000388058.2:p.Leu2004=
ENST00000713593.1:c.*5483_*5484delinsTC (ATM)	ENSP00000518889.1:n.*5483_*5484delinsTC
ENST00000278616.9:c.6012_6013delinsTC (ATM)	ENSP00000278616.4:p.Leu2004=
ENST00000525056.2:n.431_432delinsTC (ATM)
ENST00000682286.1:n.769_770delinsTC (ATM)
ENST00000682302.1:n.430_431delinsTC (ATM)
ENST00000683174.1:n.7496_7497delinsTC (ATM)
ENST00000683524.1:n.1236_1237delinsTC (ATM)
ENST00000684152.1:n.1726_1727delinsTC (ATM)
ENST00000527805.6:c.*1076_*1077delinsTC (ATM)	ENSP00000435747.2:n.*1076_*1077delinsTC
ENST00000675595.1:c.*1076_*1077delinsTC (ATM)	ENSP00000502563.1:n.*1076_*1077delinsTC
ENST00000675843.1:c.6012_6013delinsTC (ATM) MANE Select	ENSP00000501606.1:p.Leu2004=
ENST00000278616.8:c.6012_6013delinsTC (ATM)	ENSP00000278616.4:p.Leu2004=
ENST00000452508.6:c.6012_6013delinsTC (ATM)	ENSP00000388058.2:p.Leu2004=
ENST00000524792.5:n.2227_2228delinsTC (ATM)
ENST00000525729.5:c.641-6758_641-6757delinsGA (C11orf65)	ENSP00000433395.1:n.641-6758_641-6757delinsGA
ENST00000529588.5:c.436_437delinsTC (ATM)
ENST00000532765.1:n.329_330delinsTC (ATM)
ENST00000533690.5:n.1416_1417delinsTC (ATM)
NM_000051.3:c.6012_6013delinsTC , LRG_135t1:c.6012_6013delinsTC (ATM)	NP_000042.3:p.Leu2004=
XM_005271561.3:c.6012_6013delinsTC (ATM)	XP_005271618.2:p.Leu2004=
XM_005271562.3:c.6012_6013delinsTC (ATM)	XP_005271619.2:p.Leu2004=
XM_006718843.2:c.6012_6013delinsTC (ATM)	XP_006718906.1:p.Leu2004=
XM_006718845.1:c.1968_1969delinsTC (ATM)	XP_006718908.1:p.Leu656=
XM_011542840.1:c.6012_6013delinsTC (ATM)	XP_011541142.1:p.Leu2004=
XM_011542841.1:c.6012_6013delinsTC (ATM)	XP_011541143.1:p.Leu2004=
XM_011542842.1:c.5847_5848delinsTC (ATM)	XP_011541144.1:p.Leu1949=
XM_011542843.1:c.6012_6013delinsTC (ATM)	XP_011541145.1:p.Leu2004=
XM_011542844.1:c.4968_4969delinsTC (ATM)	XP_011541146.1:p.Leu1656=
XM_011542845.1:c.4704_4705delinsTC (ATM)	XP_011541147.1:p.Leu1568=
XM_011542847.1:c.1083_1084delinsTC (ATM)	XP_011541149.1:p.Leu361=
NM_001330368.1:c.641-6758_641-6757delinsGA (C11orf65)	NP_001317297.1:n.641-6758_641-6757delinsGA
NM_001351110.1:c.*39-6758_*39-6757delinsGA (C11orf65)	NP_001338039.1:n.*39-6758_*39-6757delinsGA
NM_001351834.1:c.6012_6013delinsTC (ATM)	NP_001338763.1:p.Leu2004=
XM_005271562.5:c.6012_6013delinsTC (ATM)	XP_005271619.2:p.Leu2004=
XM_006718843.4:c.6012_6013delinsTC (ATM)	XP_006718906.1:p.Leu2004=
XM_006718845.2:c.1968_1969delinsTC (ATM)	XP_006718908.1:p.Leu656=
XM_011542840.3:c.6012_6013delinsTC (ATM)	XP_011541142.1:p.Leu2004=
XM_011542842.3:c.5847_5848delinsTC (ATM)	XP_011541144.1:p.Leu1949=
XM_011542843.2:c.6012_6013delinsTC (ATM)	XP_011541145.1:p.Leu2004=
XM_011542844.3:c.4968_4969delinsTC (ATM)	XP_011541146.1:p.Leu1656=
XM_011542845.2:c.4704_4705delinsTC (ATM)	XP_011541147.1:p.Leu1568=
XM_017017789.2:c.6012_6013delinsTC (ATM)	XP_016873278.1:p.Leu2004=
XM_017017790.2:c.6012_6013delinsTC (ATM)	XP_016873279.1:p.Leu2004=
XM_017017791.1:c.6012_6013delinsTC (ATM)	XP_016873280.1:p.Leu2004=
NM_001330368.2:c.641-6758_641-6757delinsGA (C11orf65)	NP_001317297.1:n.641-6758_641-6757delinsGA
NM_001351110.2:c.*39-6758_*39-6757delinsGA (C11orf65)	NP_001338039.1:n.*39-6758_*39-6757delinsGA
NM_001351834.2:c.6012_6013delinsTC (ATM)	NP_001338763.1:p.Leu2004=
NM_000051.4:c.6012_6013delinsTC (ATM) MANE Select	NP_000042.3:p.Leu2004=