Canonical Allele Identifier: CA16041425

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 370103
• ClinVar RCV Id: RCV000412080 ; RCV002365445 ; RCV001810873
• dbSNP Id: rs1057516235
• MyVariant Identifiers: chr11:g.108198487T>G (hg19) ; chr11:g.108327760T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327760T>G , CM000673.2:g.108327760T>G	GRCh38
NC_000011.9:g.108198487T>G , CM000673.1:g.108198487T>G	GRCh37
NC_000011.8:g.107703697T>G	NCBI36
NG_009830.1:g.109929T>G , LRG_135:g.109929T>G
NG_054724.1:g.147073A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7089+2T>G (ATM)	ENSP00000388058.2:n.7089+2T>G
ENST00000713593.1:c.*6560+2T>G (ATM)	ENSP00000518889.1:n.*6560+2T>G
ENST00000278616.9:c.7089+2T>G (ATM)	ENSP00000278616.4:n.7089+2T>G
ENST00000525056.2:n.1508+2T>G (ATM)
ENST00000525537.3:n.46+2T>G (ATM)
ENST00000682286.1:n.1846+2T>G (ATM)
ENST00000682302.1:n.1507+2T>G (ATM)
ENST00000683174.1:n.8573+2T>G (ATM)
ENST00000683524.1:n.2313+2T>G (ATM)
ENST00000684152.1:n.2803+2T>G (ATM)
ENST00000684447.1:n.1552+2T>G (ATM)
ENST00000527805.6:c.*2153+2T>G (ATM)	ENSP00000435747.2:n.*2153+2T>G
ENST00000675595.1:c.*2224+2T>G (ATM)	ENSP00000502563.1:n.*2224+2T>G
ENST00000675843.1:c.7089+2T>G (ATM) MANE Select	ENSP00000501606.1:n.7089+2T>G
ENST00000278616.8:c.7089+2T>G (ATM)	ENSP00000278616.4:n.7089+2T>G
ENST00000452508.6:c.7089+2T>G (ATM)	ENSP00000388058.2:n.7089+2T>G
ENST00000524792.5:n.3304+2T>G (ATM)
ENST00000525537.2:n.365+2T>G (ATM)
ENST00000525729.5:c.641-18689A>C (C11orf65)	ENSP00000433395.1:n.641-18689A>C
ENST00000527389.2:n.114+2T>G (ATM)
ENST00000533690.5:n.2493+2T>G (ATM)
NM_000051.3:c.7089+2T>G , LRG_135t1:c.7089+2T>G (ATM)	NP_000042.3:n.7089+2T>G
XM_005271561.3:c.7089+2T>G (ATM)	XP_005271618.2:n.7089+2T>G
XM_005271562.3:c.7089+2T>G (ATM)	XP_005271619.2:n.7089+2T>G
XM_006718843.2:c.7089+2T>G (ATM)	XP_006718906.1:n.7089+2T>G
XM_006718845.1:c.3045+2T>G (ATM)	XP_006718908.1:n.3045+2T>G
XM_011542840.1:c.7089+2T>G (ATM)	XP_011541142.1:n.7089+2T>G
XM_011542841.1:c.7089+2T>G (ATM)	XP_011541143.1:n.7089+2T>G
XM_011542842.1:c.6924+2T>G (ATM)	XP_011541144.1:n.6924+2T>G
XM_011542843.1:c.7089+2T>G (ATM)	XP_011541145.1:n.7089+2T>G
XM_011542844.1:c.6045+2T>G (ATM)	XP_011541146.1:n.6045+2T>G
XM_011542845.1:c.5781+2T>G (ATM)	XP_011541147.1:n.5781+2T>G
XM_011542847.1:c.2160+2T>G (ATM)	XP_011541149.1:n.2160+2T>G
NM_001330368.1:c.641-18689A>C (C11orf65)	NP_001317297.1:n.641-18689A>C
NM_001351110.1:c.*38+7460A>C (C11orf65)	NP_001338039.1:n.*38+7460A>C
NM_001351834.1:c.7089+2T>G (ATM)	NP_001338763.1:n.7089+2T>G
XM_005271562.5:c.7089+2T>G (ATM)	XP_005271619.2:n.7089+2T>G
XM_006718843.4:c.7089+2T>G (ATM)	XP_006718906.1:n.7089+2T>G
XM_006718845.2:c.3045+2T>G (ATM)	XP_006718908.1:n.3045+2T>G
XM_011542840.3:c.7089+2T>G (ATM)	XP_011541142.1:n.7089+2T>G
XM_011542842.3:c.6924+2T>G (ATM)	XP_011541144.1:n.6924+2T>G
XM_011542843.2:c.7089+2T>G (ATM)	XP_011541145.1:n.7089+2T>G
XM_011542844.3:c.6045+2T>G (ATM)	XP_011541146.1:n.6045+2T>G
XM_011542845.2:c.5781+2T>G (ATM)	XP_011541147.1:n.5781+2T>G
XM_017017789.2:c.7089+2T>G (ATM)	XP_016873278.1:n.7089+2T>G
XM_017017790.2:c.7089+2T>G (ATM)	XP_016873279.1:n.7089+2T>G
NM_001330368.2:c.641-18689A>C (C11orf65)	NP_001317297.1:n.641-18689A>C
NM_001351110.2:c.*38+7460A>C (C11orf65)	NP_001338039.1:n.*38+7460A>C
NM_001351834.2:c.7089+2T>G (ATM)	NP_001338763.1:n.7089+2T>G
NM_000051.4:c.7089+2T>G (ATM) MANE Select	NP_000042.3:n.7089+2T>G