Canonical Allele Identifier: CA942024696

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2085617717
• gnomAD v3: 11-108325817-A-C
• gnomAD v4: 11-108325817-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325817A>C , CM000673.2:g.108325817A>C	GRCh38
NC_000011.9:g.108196544A>C , CM000673.1:g.108196544A>C	GRCh37
NC_000011.8:g.107701754A>C	NCBI36
NG_009830.1:g.107986A>C , LRG_135:g.107986A>C
NG_054724.1:g.149016T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6808-241A>C (ATM)	ENSP00000388058.2:n.6808-241A>C
ENST00000713593.1:c.*6279-241A>C (ATM)	ENSP00000518889.1:n.*6279-241A>C
ENST00000278616.9:c.6808-241A>C (ATM)	ENSP00000278616.4:n.6808-241A>C
ENST00000525056.2:n.1227-241A>C (ATM)
ENST00000682286.1:n.1565-241A>C (ATM)
ENST00000682302.1:n.1226-241A>C (ATM)
ENST00000683174.1:n.8292-241A>C (ATM)
ENST00000683524.1:n.2032-241A>C (ATM)
ENST00000684152.1:n.2522-241A>C (ATM)
ENST00000527805.6:c.*1872-241A>C (ATM)	ENSP00000435747.2:n.*1872-241A>C
ENST00000675595.1:c.*1943-241A>C (ATM)	ENSP00000502563.1:n.*1943-241A>C
ENST00000675843.1:c.6808-241A>C (ATM) MANE Select	ENSP00000501606.1:n.6808-241A>C
ENST00000278616.8:c.6808-241A>C (ATM)	ENSP00000278616.4:n.6808-241A>C
ENST00000452508.6:c.6808-241A>C (ATM)	ENSP00000388058.2:n.6808-241A>C
ENST00000524792.5:n.3023-241A>C (ATM)
ENST00000525729.5:c.641-16746T>G (C11orf65)	ENSP00000433395.1:n.641-16746T>G
ENST00000533690.5:n.2212-241A>C (ATM)
NM_000051.3:c.6808-241A>C , LRG_135t1:c.6808-241A>C (ATM)	NP_000042.3:n.6808-241A>C
XM_005271561.3:c.6808-241A>C (ATM)	XP_005271618.2:n.6808-241A>C
XM_005271562.3:c.6808-241A>C (ATM)	XP_005271619.2:n.6808-241A>C
XM_006718843.2:c.6808-241A>C (ATM)	XP_006718906.1:n.6808-241A>C
XM_006718845.1:c.2764-241A>C (ATM)	XP_006718908.1:n.2764-241A>C
XM_011542840.1:c.6808-241A>C (ATM)	XP_011541142.1:n.6808-241A>C
XM_011542841.1:c.6808-241A>C (ATM)	XP_011541143.1:n.6808-241A>C
XM_011542842.1:c.6643-241A>C (ATM)	XP_011541144.1:n.6643-241A>C
XM_011542843.1:c.6808-241A>C (ATM)	XP_011541145.1:n.6808-241A>C
XM_011542844.1:c.5764-241A>C (ATM)	XP_011541146.1:n.5764-241A>C
XM_011542845.1:c.5500-241A>C (ATM)	XP_011541147.1:n.5500-241A>C
XM_011542847.1:c.1879-241A>C (ATM)	XP_011541149.1:n.1879-241A>C
NM_001330368.1:c.641-16746T>G (C11orf65)	NP_001317297.1:n.641-16746T>G
NM_001351110.1:c.*38+9403T>G (C11orf65)	NP_001338039.1:n.*38+9403T>G
NM_001351834.1:c.6808-241A>C (ATM)	NP_001338763.1:n.6808-241A>C
XM_005271562.5:c.6808-241A>C (ATM)	XP_005271619.2:n.6808-241A>C
XM_006718843.4:c.6808-241A>C (ATM)	XP_006718906.1:n.6808-241A>C
XM_006718845.2:c.2764-241A>C (ATM)	XP_006718908.1:n.2764-241A>C
XM_011542840.3:c.6808-241A>C (ATM)	XP_011541142.1:n.6808-241A>C
XM_011542842.3:c.6643-241A>C (ATM)	XP_011541144.1:n.6643-241A>C
XM_011542843.2:c.6808-241A>C (ATM)	XP_011541145.1:n.6808-241A>C
XM_011542844.3:c.5764-241A>C (ATM)	XP_011541146.1:n.5764-241A>C
XM_011542845.2:c.5500-241A>C (ATM)	XP_011541147.1:n.5500-241A>C
XM_017017789.2:c.6808-241A>C (ATM)	XP_016873278.1:n.6808-241A>C
XM_017017790.2:c.6808-241A>C (ATM)	XP_016873279.1:n.6808-241A>C
NM_001330368.2:c.641-16746T>G (C11orf65)	NP_001317297.1:n.641-16746T>G
NM_001351110.2:c.*38+9403T>G (C11orf65)	NP_001338039.1:n.*38+9403T>G
NM_001351834.2:c.6808-241A>C (ATM)	NP_001338763.1:n.6808-241A>C
NM_000051.4:c.6808-241A>C (ATM) MANE Select	NP_000042.3:n.6808-241A>C