Canonical Allele Identifier: CA10579306

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 229768
• ClinVar RCV Id: RCV000628104 ; RCV000213099
• dbSNP Id: rs876658182
• MyVariant Identifiers: chr11:g.108216636G>A (hg19) ; chr11:g.108345909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108345909G>A , CM000673.2:g.108345909G>A	GRCh38
NC_000011.9:g.108216636G>A , CM000673.1:g.108216636G>A	GRCh37
NC_000011.8:g.107721846G>A	NCBI36
NG_009830.1:g.128078G>A , LRG_135:g.128078G>A
NG_054724.1:g.128924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8584+1G>A (ATM)	ENSP00000388058.2:n.8584+1G>A
ENST00000713593.1:c.*8055+1G>A (ATM)	ENSP00000518889.1:n.*8055+1G>A
ENST00000278616.9:c.8584+1G>A (ATM)	ENSP00000278616.4:n.8584+1G>A
ENST00000638786.2:n.1282+1G>A (ATM)
ENST00000682286.1:n.3341+1G>A (ATM)
ENST00000682302.1:n.3002+1G>A (ATM)
ENST00000683174.1:n.10068+1G>A (ATM)
ENST00000683524.1:n.3808+1G>A (ATM)
ENST00000684152.1:n.4000+1G>A (ATM)
ENST00000684180.1:n.1058+1G>A (ATM)
ENST00000684447.1:n.5077+1G>A (ATM)
ENST00000527805.6:c.*3648+1G>A (ATM)	ENSP00000435747.2:n.*3648+1G>A
ENST00000675595.1:c.*3719+1G>A (ATM)	ENSP00000502563.1:n.*3719+1G>A
ENST00000675843.1:c.8584+1G>A (ATM) MANE Select	ENSP00000501606.1:n.8584+1G>A
ENST00000278616.8:c.8584+1G>A (ATM)	ENSP00000278616.4:n.8584+1G>A
ENST00000452508.6:c.8584+1G>A (ATM)	ENSP00000388058.2:n.8584+1G>A
ENST00000524755.5:c.227-10617C>T (C11orf65)
ENST00000524792.5:n.4799+1G>A (ATM)
ENST00000525729.5:c.641-36838C>T (C11orf65)	ENSP00000433395.1:n.641-36838C>T
ENST00000526725.1:n.272-5545C>T (C11orf65)
ENST00000527531.5:c.*1196+9006C>T (C11orf65)	ENSP00000431706.1:n.*1196+9006C>T
ENST00000615746.4:c.*1196+9006C>T (C11orf65)	ENSP00000483537.1:n.*1196+9006C>T
NM_000051.3:c.8584+1G>A , LRG_135t1:c.8584+1G>A (ATM)	NP_000042.3:n.8584+1G>A
XM_005271414.3:c.788-10617C>T (C11orf65)	XP_005271471.1:n.788-10617C>T
XM_005271415.3:c.732-10617C>T (C11orf65)	XP_005271472.1:n.732-10617C>T
XM_005271561.3:c.8584+1G>A (ATM)	XP_005271618.2:n.8584+1G>A
XM_005271562.3:c.8584+1G>A (ATM)	XP_005271619.2:n.8584+1G>A
XM_006718843.2:c.8584+1G>A (ATM)	XP_006718906.1:n.8584+1G>A
XM_006718845.1:c.4540+1G>A (ATM)	XP_006718908.1:n.4540+1G>A
XM_011542640.1:c.788-5545C>T (C11orf65)	XP_011540942.1:n.788-5545C>T
XM_011542643.1:c.732-5545C>T (C11orf65)	XP_011540945.1:n.732-5545C>T
XM_011542840.1:c.8584+1G>A (ATM)	XP_011541142.1:n.8584+1G>A
XM_011542841.1:c.8584+1G>A (ATM)	XP_011541143.1:n.8584+1G>A
XM_011542842.1:c.8419+1G>A (ATM)	XP_011541144.1:n.8419+1G>A
XM_011542843.1:c.8584+1G>A (ATM)	XP_011541145.1:n.8584+1G>A
XM_011542844.1:c.7540+1G>A (ATM)	XP_011541146.1:n.7540+1G>A
XM_011542845.1:c.7276+1G>A (ATM)	XP_011541147.1:n.7276+1G>A
XM_011542847.1:c.3655+1G>A (ATM)	XP_011541149.1:n.3655+1G>A
NM_001330368.1:c.641-36838C>T (C11orf65)	NP_001317297.1:n.641-36838C>T
NM_001351110.1:c.695-10617C>T (C11orf65)	NP_001338039.1:n.695-10617C>T
NM_001351834.1:c.8584+1G>A (ATM)	NP_001338763.1:n.8584+1G>A
NR_147053.2:n.2301+9006C>T (C11orf65)
XM_005271414.4:c.788-10617C>T (C11orf65)	XP_005271471.1:n.788-10617C>T
XM_005271415.4:c.732-10617C>T (C11orf65)	XP_005271472.1:n.732-10617C>T
XM_005271562.5:c.8584+1G>A (ATM)	XP_005271619.2:n.8584+1G>A
XM_006718843.4:c.8584+1G>A (ATM)	XP_006718906.1:n.8584+1G>A
XM_006718845.2:c.4540+1G>A (ATM)	XP_006718908.1:n.4540+1G>A
XM_011542640.2:c.788-5545C>T (C11orf65)	XP_011540942.1:n.788-5545C>T
XM_011542643.2:c.732-5545C>T (C11orf65)	XP_011540945.1:n.732-5545C>T
XM_011542840.3:c.8584+1G>A (ATM)	XP_011541142.1:n.8584+1G>A
XM_011542842.3:c.8419+1G>A (ATM)	XP_011541144.1:n.8419+1G>A
XM_011542843.2:c.8584+1G>A (ATM)	XP_011541145.1:n.8584+1G>A
XM_011542844.3:c.7540+1G>A (ATM)	XP_011541146.1:n.7540+1G>A
XM_011542845.2:c.7276+1G>A (ATM)	XP_011541147.1:n.7276+1G>A
XM_017017247.1:c.904-5545C>T (C11orf65)	XP_016872736.1:n.904-5545C>T
XM_017017789.2:c.8584+1G>A (ATM)	XP_016873278.1:n.8584+1G>A
XM_017017790.2:c.8584+1G>A (ATM)	XP_016873279.1:n.8584+1G>A
NM_001330368.2:c.641-36838C>T (C11orf65)	NP_001317297.1:n.641-36838C>T
NM_001351110.2:c.695-10617C>T (C11orf65)	NP_001338039.1:n.695-10617C>T
NM_001351834.2:c.8584+1G>A (ATM)	NP_001338763.1:n.8584+1G>A
NM_000051.4:c.8584+1G>A (ATM) MANE Select	NP_000042.3:n.8584+1G>A
NR_147053.3:n.2299+9006C>T (C11orf65)