Canonical Allele Identifier: CA16606226

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 383566
• ClinVar RCV Id: RCV000628296 ; RCV001720186 ; RCV001177842 ; RCV003492044
• dbSNP Id: rs1057521676
• gnomAD v2: 11-108235799-C-T
• MyVariant Identifiers: chr11:g.108235799C>T (hg19) ; chr11:g.108365072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108365072C>T , CM000673.2:g.108365072C>T	GRCh38
NC_000011.9:g.108235799C>T , CM000673.1:g.108235799C>T	GRCh37
NC_000011.8:g.107741009C>T	NCBI36
NG_009830.1:g.147241C>T , LRG_135:g.147241C>T
NG_054724.1:g.109761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8851-10C>T (ATM)	ENSP00000388058.2:n.8851-10C>T
ENST00000713593.1:c.*8322-10C>T (ATM)	ENSP00000518889.1:n.*8322-10C>T
ENST00000278616.9:c.8851-10C>T (ATM)	ENSP00000278616.4:n.8851-10C>T
ENST00000638786.2:n.1549-10C>T (ATM)
ENST00000682286.1:n.3608-10C>T (ATM)
ENST00000682302.1:n.3269-10C>T (ATM)
ENST00000682569.1:n.2188C>T (ATM)
ENST00000683174.1:n.10335-10C>T (ATM)
ENST00000683524.1:n.4075-10C>T (ATM)
ENST00000684152.1:n.4267-10C>T (ATM)
ENST00000684180.1:n.1325-10C>T (ATM)
ENST00000684447.1:n.5344-10C>T (ATM)
ENST00000527805.6:c.*3915-10C>T (ATM)	ENSP00000435747.2:n.*3915-10C>T
ENST00000675595.1:c.*3986-10C>T (ATM)	ENSP00000502563.1:n.*3986-10C>T
ENST00000675843.1:c.8851-10C>T (ATM) MANE Select	ENSP00000501606.1:n.8851-10C>T
ENST00000278616.8:c.8851-10C>T (ATM)	ENSP00000278616.4:n.8851-10C>T
ENST00000452508.6:c.8851-10C>T (ATM)	ENSP00000388058.2:n.8851-10C>T
ENST00000524755.5:c.226+28136G>A (C11orf65)
ENST00000524792.5:n.5066-10C>T (ATM)
ENST00000525178.5:n.339-10C>T (ATM)
ENST00000525729.5:c.640+20848G>A (C11orf65)	ENSP00000433395.1:n.640+20848G>A
ENST00000526725.1:n.272-24708G>A (C11orf65)
ENST00000527181.1:n.190-10C>T (ATM)
ENST00000527531.5:c.*2-8963G>A (C11orf65)	ENSP00000431706.1:n.*2-8963G>A
ENST00000615746.4:c.*2-8963G>A (C11orf65)	ENSP00000483537.1:n.*2-8963G>A
NM_000051.3:c.8851-10C>T , LRG_135t1:c.8851-10C>T (ATM)	NP_000042.3:n.8851-10C>T
XM_005271414.3:c.787+20848G>A (C11orf65)	XP_005271471.1:n.787+20848G>A
XM_005271415.3:c.731+28136G>A (C11orf65)	XP_005271472.1:n.731+28136G>A
XM_005271561.3:c.8851-10C>T (ATM)	XP_005271618.2:n.8851-10C>T
XM_005271562.3:c.8851-10C>T (ATM)	XP_005271619.2:n.8851-10C>T
XM_006718843.2:c.8851-10C>T (ATM)	XP_006718906.1:n.8851-10C>T
XM_006718845.1:c.4807-10C>T (ATM)	XP_006718908.1:n.4807-10C>T
XM_011542640.1:c.787+20848G>A (C11orf65)	XP_011540942.1:n.787+20848G>A
XM_011542642.1:c.732-15999G>A (C11orf65)	XP_011540944.1:n.732-15999G>A
XM_011542643.1:c.732-24708G>A (C11orf65)	XP_011540945.1:n.732-24708G>A
XM_011542840.1:c.8851-10C>T (ATM)	XP_011541142.1:n.8851-10C>T
XM_011542841.1:c.8851-10C>T (ATM)	XP_011541143.1:n.8851-10C>T
XM_011542842.1:c.8686-10C>T (ATM)	XP_011541144.1:n.8686-10C>T
XM_011542844.1:c.7807-10C>T (ATM)	XP_011541146.1:n.7807-10C>T
XM_011542845.1:c.7543-10C>T (ATM)	XP_011541147.1:n.7543-10C>T
XM_011542847.1:c.3922-10C>T (ATM)	XP_011541149.1:n.3922-10C>T
NM_001330368.1:c.640+20848G>A (C11orf65)	NP_001317297.1:n.640+20848G>A
NM_001351110.1:c.694+20848G>A (C11orf65)	NP_001338039.1:n.694+20848G>A
NM_001351834.1:c.8851-10C>T (ATM)	NP_001338763.1:n.8851-10C>T
NR_147053.2:n.1107-8963G>A (C11orf65)
XM_005271414.4:c.787+20848G>A (C11orf65)	XP_005271471.1:n.787+20848G>A
XM_005271415.4:c.731+28136G>A (C11orf65)	XP_005271472.1:n.731+28136G>A
XM_005271562.5:c.8851-10C>T (ATM)	XP_005271619.2:n.8851-10C>T
XM_006718843.4:c.8851-10C>T (ATM)	XP_006718906.1:n.8851-10C>T
XM_006718845.2:c.4807-10C>T (ATM)	XP_006718908.1:n.4807-10C>T
XM_011542640.2:c.787+20848G>A (C11orf65)	XP_011540942.1:n.787+20848G>A
XM_011542643.2:c.732-24708G>A (C11orf65)	XP_011540945.1:n.732-24708G>A
XM_011542840.3:c.8851-10C>T (ATM)	XP_011541142.1:n.8851-10C>T
XM_011542842.3:c.8686-10C>T (ATM)	XP_011541144.1:n.8686-10C>T
XM_011542844.3:c.7807-10C>T (ATM)	XP_011541146.1:n.7807-10C>T
XM_011542845.2:c.7543-10C>T (ATM)	XP_011541147.1:n.7543-10C>T
XM_017017247.1:c.903+17988G>A (C11orf65)	XP_016872736.1:n.903+17988G>A
XM_017017789.2:c.8851-10C>T (ATM)	XP_016873278.1:n.8851-10C>T
XM_017017790.2:c.8851-10C>T (ATM)	XP_016873279.1:n.8851-10C>T
NM_001330368.2:c.640+20848G>A (C11orf65)	NP_001317297.1:n.640+20848G>A
NM_001351110.2:c.694+20848G>A (C11orf65)	NP_001338039.1:n.694+20848G>A
NM_001351834.2:c.8851-10C>T (ATM)	NP_001338763.1:n.8851-10C>T
NM_000051.4:c.8851-10C>T (ATM) MANE Select	NP_000042.3:n.8851-10C>T
NR_147053.3:n.1105-8963G>A (C11orf65)