Canonical Allele Identifier: CA382561418

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 827300
• ClinVar RCV Id: RCV001026895
• dbSNP Id: rs1272613396
• MyVariant Identifiers: chr11:g.108203573G>C (hg19) ; chr11:g.108332846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332846G>C , CM000673.2:g.108332846G>C	GRCh38
NC_000011.9:g.108203573G>C , CM000673.1:g.108203573G>C	GRCh37
NC_000011.8:g.107708783G>C	NCBI36
NG_009830.1:g.115015G>C , LRG_135:g.115015G>C
NG_054724.1:g.141987C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7873G>C (ATM)	ENSP00000388058.2:p.Asp2625His
ENST00000713593.1:c.*7344G>C (ATM)	ENSP00000518889.1:n.*7344G>C
ENST00000278616.9:c.7873G>C (ATM)	ENSP00000278616.4:p.Asp2625His
ENST00000525056.2:n.2292G>C (ATM)
ENST00000525537.3:n.1554G>C (ATM)
ENST00000638786.2:n.625+809G>C (ATM)
ENST00000682286.1:n.2630G>C (ATM)
ENST00000682302.1:n.2291G>C (ATM)
ENST00000683174.1:n.9357G>C (ATM)
ENST00000683524.1:n.3097G>C (ATM)
ENST00000684152.1:n.3344-1040G>C (ATM)
ENST00000684180.1:n.347G>C (ATM)
ENST00000684447.1:n.3381G>C (ATM)
ENST00000527805.6:c.*2937G>C (ATM)	ENSP00000435747.2:n.*2937G>C
ENST00000675595.1:c.*3008G>C (ATM)	ENSP00000502563.1:n.*3008G>C
ENST00000675843.1:c.7873G>C (ATM) MANE Select	ENSP00000501606.1:p.Asp2625His
ENST00000278616.8:c.7873G>C (ATM)	ENSP00000278616.4:p.Asp2625His
ENST00000452508.6:c.7873G>C (ATM)	ENSP00000388058.2:p.Asp2625His
ENST00000524755.5:c.300-1279C>G (C11orf65)
ENST00000524792.5:n.4088G>C (ATM)
ENST00000525056.1:n.70G>C (ATM)
ENST00000525729.5:c.641-23775C>G (C11orf65)	ENSP00000433395.1:n.641-23775C>G
ENST00000527531.5:c.*1270-1279C>G (C11orf65)	ENSP00000431706.1:n.*1270-1279C>G
ENST00000533690.5:n.3277G>C (ATM)
ENST00000533979.5:n.85G>C (ATM)
ENST00000615746.4:c.*1270-1279C>G (C11orf65)	ENSP00000483537.1:n.*1270-1279C>G
NM_000051.3:c.7873G>C , LRG_135t1:c.7873G>C (ATM)	NP_000042.3:p.Asp2625His
XM_005271414.3:c.*39-1279C>G (C11orf65)	XP_005271471.1:n.*39-1279C>G
XM_005271415.3:c.805-1279C>G (C11orf65)	XP_005271472.1:n.805-1279C>G
XM_005271561.3:c.7873G>C (ATM)	XP_005271618.2:p.Asp2625His
XM_005271562.3:c.7873G>C (ATM)	XP_005271619.2:p.Asp2625His
XM_006718843.2:c.7873G>C (ATM)	XP_006718906.1:p.Asp2625His
XM_006718845.1:c.3829G>C (ATM)	XP_006718908.1:p.Asp1277His
XM_011542840.1:c.7873G>C (ATM)	XP_011541142.1:p.Asp2625His
XM_011542841.1:c.7873G>C (ATM)	XP_011541143.1:p.Asp2625His
XM_011542842.1:c.7708G>C (ATM)	XP_011541144.1:p.Asp2570His
XM_011542843.1:c.7873G>C (ATM)	XP_011541145.1:p.Asp2625His
XM_011542844.1:c.6829G>C (ATM)	XP_011541146.1:p.Asp2277His
XM_011542845.1:c.6565G>C (ATM)	XP_011541147.1:p.Asp2189His
XM_011542847.1:c.2944G>C (ATM)	XP_011541149.1:p.Asp982His
NM_001330368.1:c.641-23775C>G (C11orf65)	NP_001317297.1:n.641-23775C>G
NM_001351110.1:c.*38+2374C>G (C11orf65)	NP_001338039.1:n.*38+2374C>G
NM_001351834.1:c.7873G>C (ATM)	NP_001338763.1:p.Asp2625His
NR_147053.2:n.2375-1279C>G (C11orf65)
XM_005271414.4:c.*39-1279C>G (C11orf65)	XP_005271471.1:n.*39-1279C>G
XM_005271415.4:c.805-1279C>G (C11orf65)	XP_005271472.1:n.805-1279C>G
XM_005271562.5:c.7873G>C (ATM)	XP_005271619.2:p.Asp2625His
XM_006718843.4:c.7873G>C (ATM)	XP_006718906.1:p.Asp2625His
XM_006718845.2:c.3829G>C (ATM)	XP_006718908.1:p.Asp1277His
XM_011542840.3:c.7873G>C (ATM)	XP_011541142.1:p.Asp2625His
XM_011542842.3:c.7708G>C (ATM)	XP_011541144.1:p.Asp2570His
XM_011542843.2:c.7873G>C (ATM)	XP_011541145.1:p.Asp2625His
XM_011542844.3:c.6829G>C (ATM)	XP_011541146.1:p.Asp2277His
XM_011542845.2:c.6565G>C (ATM)	XP_011541147.1:p.Asp2189His
XM_017017789.2:c.7873G>C (ATM)	XP_016873278.1:p.Asp2625His
XM_017017790.2:c.7873G>C (ATM)	XP_016873279.1:p.Asp2625His
NM_001330368.2:c.641-23775C>G (C11orf65)	NP_001317297.1:n.641-23775C>G
NM_001351110.2:c.*38+2374C>G (C11orf65)	NP_001338039.1:n.*38+2374C>G
NM_001351834.2:c.7873G>C (ATM)	NP_001338763.1:p.Asp2625His
NM_000051.4:c.7873G>C (ATM) MANE Select	NP_000042.3:p.Asp2625His
NR_147053.3:n.2373-1279C>G (C11orf65)