Canonical Allele Identifier: CA915947653

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 826204
• ClinVar RCV Id: RCV001024940
• dbSNP Id: rs1591779011

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316060_108316062delinsAAA , CM000673.2:g.108316060_108316062delinsAAA	GRCh38
NC_000011.9:g.108186787_108186789delinsAAA , CM000673.1:g.108186787_108186789delinsAAA	GRCh37
NC_000011.8:g.107691997_107691999delinsAAA	NCBI36
NG_009830.1:g.98229_98231delinsAAA , LRG_135:g.98229_98231delinsAAA
NG_054724.1:g.158771_158773delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6145_6147delinsAAA (ATM)	ENSP00000388058.2:p.Tyr2049Lys
ENST00000713593.1:c.*5616_*5618delinsAAA (ATM)	ENSP00000518889.1:n.*5616_*5618delinsAAA
ENST00000278616.9:c.6145_6147delinsAAA (ATM)	ENSP00000278616.4:p.Tyr2049Lys
ENST00000525056.2:n.564_566delinsAAA (ATM)
ENST00000682286.1:n.902_904delinsAAA (ATM)
ENST00000682302.1:n.563_565delinsAAA (ATM)
ENST00000683174.1:n.7629_7631delinsAAA (ATM)
ENST00000683524.1:n.1369_1371delinsAAA (ATM)
ENST00000684152.1:n.1859_1861delinsAAA (ATM)
ENST00000527805.6:c.*1209_*1211delinsAAA (ATM)	ENSP00000435747.2:n.*1209_*1211delinsAAA
ENST00000675595.1:c.*1209_*1211delinsAAA (ATM)	ENSP00000502563.1:n.*1209_*1211delinsAAA
ENST00000675843.1:c.6145_6147delinsAAA (ATM) MANE Select	ENSP00000501606.1:p.Tyr2049Lys
ENST00000278616.8:c.6145_6147delinsAAA (ATM)	ENSP00000278616.4:p.Tyr2049Lys
ENST00000452508.6:c.6145_6147delinsAAA (ATM)	ENSP00000388058.2:p.Tyr2049Lys
ENST00000524792.5:n.2360_2362delinsAAA (ATM)
ENST00000525729.5:c.641-6991_641-6989delinsTTT (C11orf65)	ENSP00000433395.1:n.641-6991_641-6989delinsTTT
ENST00000532765.1:n.462_464delinsAAA (ATM)
ENST00000533690.5:n.1549_1551delinsAAA (ATM)
NM_000051.3:c.6145_6147delinsAAA , LRG_135t1:c.6145_6147delinsAAA (ATM)	NP_000042.3:p.Tyr2049Lys
XM_005271561.3:c.6145_6147delinsAAA (ATM)	XP_005271618.2:p.Tyr2049Lys
XM_005271562.3:c.6145_6147delinsAAA (ATM)	XP_005271619.2:p.Tyr2049Lys
XM_006718843.2:c.6145_6147delinsAAA (ATM)	XP_006718906.1:p.Tyr2049Lys
XM_006718845.1:c.2101_2103delinsAAA (ATM)	XP_006718908.1:p.Tyr701Lys
XM_011542840.1:c.6145_6147delinsAAA (ATM)	XP_011541142.1:p.Tyr2049Lys
XM_011542841.1:c.6145_6147delinsAAA (ATM)	XP_011541143.1:p.Tyr2049Lys
XM_011542842.1:c.5980_5982delinsAAA (ATM)	XP_011541144.1:p.Tyr1994Lys
XM_011542843.1:c.6145_6147delinsAAA (ATM)	XP_011541145.1:p.Tyr2049Lys
XM_011542844.1:c.5101_5103delinsAAA (ATM)	XP_011541146.1:p.Tyr1701Lys
XM_011542845.1:c.4837_4839delinsAAA (ATM)	XP_011541147.1:p.Tyr1613Lys
XM_011542847.1:c.1216_1218delinsAAA (ATM)	XP_011541149.1:p.Tyr406Lys
NM_001330368.1:c.641-6991_641-6989delinsTTT (C11orf65)	NP_001317297.1:n.641-6991_641-6989delinsTTT
NM_001351110.1:c.*39-6991_*39-6989delinsTTT (C11orf65)	NP_001338039.1:n.*39-6991_*39-6989delinsTTT
NM_001351834.1:c.6145_6147delinsAAA (ATM)	NP_001338763.1:p.Tyr2049Lys
XM_005271562.5:c.6145_6147delinsAAA (ATM)	XP_005271619.2:p.Tyr2049Lys
XM_006718843.4:c.6145_6147delinsAAA (ATM)	XP_006718906.1:p.Tyr2049Lys
XM_006718845.2:c.2101_2103delinsAAA (ATM)	XP_006718908.1:p.Tyr701Lys
XM_011542840.3:c.6145_6147delinsAAA (ATM)	XP_011541142.1:p.Tyr2049Lys
XM_011542842.3:c.5980_5982delinsAAA (ATM)	XP_011541144.1:p.Tyr1994Lys
XM_011542843.2:c.6145_6147delinsAAA (ATM)	XP_011541145.1:p.Tyr2049Lys
XM_011542844.3:c.5101_5103delinsAAA (ATM)	XP_011541146.1:p.Tyr1701Lys
XM_011542845.2:c.4837_4839delinsAAA (ATM)	XP_011541147.1:p.Tyr1613Lys
XM_017017789.2:c.6145_6147delinsAAA (ATM)	XP_016873278.1:p.Tyr2049Lys
XM_017017790.2:c.6145_6147delinsAAA (ATM)	XP_016873279.1:p.Tyr2049Lys
XM_017017791.1:c.6145_6147delinsAAA (ATM)	XP_016873280.1:p.Tyr2049Lys
NM_001330368.2:c.641-6991_641-6989delinsTTT (C11orf65)	NP_001317297.1:n.641-6991_641-6989delinsTTT
NM_001351110.2:c.*39-6991_*39-6989delinsTTT (C11orf65)	NP_001338039.1:n.*39-6991_*39-6989delinsTTT
NM_001351834.2:c.6145_6147delinsAAA (ATM)	NP_001338763.1:p.Tyr2049Lys
NM_000051.4:c.6145_6147delinsAAA (ATM) MANE Select	NP_000042.3:p.Tyr2049Lys