Canonical Allele Identifier: CA197466

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 187366
• ClinVar RCV Id: RCV000167089 ; RCV000479774 ; RCV000628086
• dbSNP Id: rs786203678
• gnomAD v2: 11-108180899-AACAATTTTTAATGAT-A
• gnomAD v4: 11-108310172-AACAATTTTTAATGAT-A
• MyVariant Identifiers: chr11:g.108180900_108180914del (hg19) ; chr11:g.108310173_108310187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108310173_108310187del , CM000673.2:g.108310173_108310187del	GRCh38
NC_000011.9:g.108180900_108180914del , CM000673.1:g.108180900_108180914del	GRCh37
NC_000011.8:g.107686110_107686124del	NCBI36
NG_009830.1:g.92342_92356del , LRG_135:g.92342_92356del
NG_054724.1:g.164646_164660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5776_5790del (ATM)	ENSP00000388058.2:p.Thr1926_Asp1930del
ENST00000713593.1:c.*5247_*5261del (ATM)	ENSP00000518889.1:n.*5247_*5261del
ENST00000278616.9:c.5776_5790del (ATM)	ENSP00000278616.4:p.Thr1926_Asp1930del
ENST00000525056.2:n.195_209del (ATM)
ENST00000682286.1:n.533_547del (ATM)
ENST00000682302.1:n.194_208del (ATM)
ENST00000683174.1:n.7260_7274del (ATM)
ENST00000683524.1:n.1000_1014del (ATM)
ENST00000684152.1:n.1490_1504del (ATM)
ENST00000527805.6:c.*840_*854del (ATM)	ENSP00000435747.2:n.*840_*854del
ENST00000675595.1:c.*840_*854del (ATM)	ENSP00000502563.1:n.*840_*854del
ENST00000675843.1:c.5776_5790del (ATM) MANE Select	ENSP00000501606.1:p.Thr1926_Asp1930del
ENST00000278616.8:c.5776_5790del (ATM)	ENSP00000278616.4:p.Thr1926_Asp1930del
ENST00000452508.6:c.5776_5790del (ATM)	ENSP00000388058.2:p.Thr1926_Asp1930del
ENST00000524792.5:n.1991_2005del (ATM)
ENST00000525729.5:c.641-1116_641-1102del (C11orf65)	ENSP00000433395.1:n.641-1116_641-1102del
ENST00000529588.5:c.200_214del (ATM)
ENST00000532765.1:n.93_107del (ATM)
ENST00000533690.5:n.1180_1194del (ATM)
NM_000051.3:c.5776_5790del , LRG_135t1:c.5776_5790del (ATM)	NP_000042.3:p.Thr1926_Asp1930del
XM_005271561.3:c.5776_5790del (ATM)	XP_005271618.2:p.Thr1926_Asp1930del
XM_005271562.3:c.5776_5790del (ATM)	XP_005271619.2:p.Thr1926_Asp1930del
XM_006718843.2:c.5776_5790del (ATM)	XP_006718906.1:p.Thr1926_Asp1930del
XM_006718845.1:c.1732_1746del (ATM)	XP_006718908.1:p.Thr578_Asp582del
XM_011542840.1:c.5776_5790del (ATM)	XP_011541142.1:p.Thr1926_Asp1930del
XM_011542841.1:c.5776_5790del (ATM)	XP_011541143.1:p.Thr1926_Asp1930del
XM_011542842.1:c.5611_5625del (ATM)	XP_011541144.1:p.Thr1871_Asp1875del
XM_011542843.1:c.5776_5790del (ATM)	XP_011541145.1:p.Thr1926_Asp1930del
XM_011542844.1:c.4732_4746del (ATM)	XP_011541146.1:p.Thr1578_Asp1582del
XM_011542845.1:c.4468_4482del (ATM)	XP_011541147.1:p.Thr1490_Asp1494del
XM_011542847.1:c.847_861del (ATM)	XP_011541149.1:p.Thr283_Asp287del
NM_001330368.1:c.641-1116_641-1102del (C11orf65)	NP_001317297.1:n.641-1116_641-1102del
NM_001351110.1:c.*39-1116_*39-1102del (C11orf65)	NP_001338039.1:n.*39-1116_*39-1102del
NM_001351834.1:c.5776_5790del (ATM)	NP_001338763.1:p.Thr1926_Asp1930del
XM_005271562.5:c.5776_5790del (ATM)	XP_005271619.2:p.Thr1926_Asp1930del
XM_006718843.4:c.5776_5790del (ATM)	XP_006718906.1:p.Thr1926_Asp1930del
XM_006718845.2:c.1732_1746del (ATM)	XP_006718908.1:p.Thr578_Asp582del
XM_011542840.3:c.5776_5790del (ATM)	XP_011541142.1:p.Thr1926_Asp1930del
XM_011542842.3:c.5611_5625del (ATM)	XP_011541144.1:p.Thr1871_Asp1875del
XM_011542843.2:c.5776_5790del (ATM)	XP_011541145.1:p.Thr1926_Asp1930del
XM_011542844.3:c.4732_4746del (ATM)	XP_011541146.1:p.Thr1578_Asp1582del
XM_011542845.2:c.4468_4482del (ATM)	XP_011541147.1:p.Thr1490_Asp1494del
XM_017017789.2:c.5776_5790del (ATM)	XP_016873278.1:p.Thr1926_Asp1930del
XM_017017790.2:c.5776_5790del (ATM)	XP_016873279.1:p.Thr1926_Asp1930del
XM_017017791.1:c.5776_5790del (ATM)	XP_016873280.1:p.Thr1926_Asp1930del
XR_002957150.1:n.6376_6390del (ATM)
NM_001330368.2:c.641-1116_641-1102del (C11orf65)	NP_001317297.1:n.641-1116_641-1102del
NM_001351110.2:c.*39-1116_*39-1102del (C11orf65)	NP_001338039.1:n.*39-1116_*39-1102del
NM_001351834.2:c.5776_5790del (ATM)	NP_001338763.1:p.Thr1926_Asp1930del
NM_000051.4:c.5776_5790del (ATM) MANE Select	NP_000042.3:p.Thr1926_Asp1930del