Canonical Allele Identifier: CA658683722

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 490743
• ClinVar RCV Id: RCV000582693 ; RCV003767297
• dbSNP Id: rs1555142794
• gnomAD v4: 11-108353760-C-A
• MyVariant Identifiers: chr11:g.108224487C>A (hg19) ; chr11:g.108353760C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353760C>A , CM000673.2:g.108353760C>A	GRCh38
NC_000011.9:g.108224487C>A , CM000673.1:g.108224487C>A	GRCh37
NC_000011.8:g.107729697C>A	NCBI36
NG_009830.1:g.135929C>A , LRG_135:g.135929C>A
NG_054724.1:g.121073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8672-6C>A (ATM)	ENSP00000388058.2:n.8672-6C>A
ENST00000713593.1:c.*8143-6C>A (ATM)	ENSP00000518889.1:n.*8143-6C>A
ENST00000278616.9:c.8672-6C>A (ATM)	ENSP00000278616.4:n.8672-6C>A
ENST00000638786.2:n.1370-6C>A (ATM)
ENST00000682286.1:n.3429-6C>A (ATM)
ENST00000682302.1:n.3090-6C>A (ATM)
ENST00000683174.1:n.10156-6C>A (ATM)
ENST00000683524.1:n.3896-6C>A (ATM)
ENST00000684152.1:n.4088-6C>A (ATM)
ENST00000684180.1:n.1146-6C>A (ATM)
ENST00000684447.1:n.5165-6C>A (ATM)
ENST00000527805.6:c.*3736-6C>A (ATM)	ENSP00000435747.2:n.*3736-6C>A
ENST00000675595.1:c.*3807-6C>A (ATM)	ENSP00000502563.1:n.*3807-6C>A
ENST00000675843.1:c.8672-6C>A (ATM) MANE Select	ENSP00000501606.1:n.8672-6C>A
ENST00000278616.8:c.8672-6C>A (ATM)	ENSP00000278616.4:n.8672-6C>A
ENST00000452508.6:c.8672-6C>A (ATM)	ENSP00000388058.2:n.8672-6C>A
ENST00000524755.5:c.227-18468G>T (C11orf65)
ENST00000524792.5:n.4887-6C>A (ATM)
ENST00000525178.5:n.160-6C>A (ATM)
ENST00000525729.5:c.640+32160G>T (C11orf65)	ENSP00000433395.1:n.640+32160G>T
ENST00000526725.1:n.272-13396G>T (C11orf65)
ENST00000527181.1:n.5C>A (ATM)
ENST00000527531.5:c.*1196+1155G>T (C11orf65)	ENSP00000431706.1:n.*1196+1155G>T
ENST00000615746.4:c.*1196+1155G>T (C11orf65)	ENSP00000483537.1:n.*1196+1155G>T
NM_000051.3:c.8672-6C>A , LRG_135t1:c.8672-6C>A (ATM)	NP_000042.3:n.8672-6C>A
XM_005271414.3:c.788-18468G>T (C11orf65)	XP_005271471.1:n.788-18468G>T
XM_005271415.3:c.732-18468G>T (C11orf65)	XP_005271472.1:n.732-18468G>T
XM_005271561.3:c.8672-6C>A (ATM)	XP_005271618.2:n.8672-6C>A
XM_005271562.3:c.8672-6C>A (ATM)	XP_005271619.2:n.8672-6C>A
XM_006718843.2:c.8672-6C>A (ATM)	XP_006718906.1:n.8672-6C>A
XM_006718845.1:c.4628-6C>A (ATM)	XP_006718908.1:n.4628-6C>A
XM_011542640.1:c.788-13396G>T (C11orf65)	XP_011540942.1:n.788-13396G>T
XM_011542642.1:c.732-4687G>T (C11orf65)	XP_011540944.1:n.732-4687G>T
XM_011542643.1:c.732-13396G>T (C11orf65)	XP_011540945.1:n.732-13396G>T
XM_011542840.1:c.8672-6C>A (ATM)	XP_011541142.1:n.8672-6C>A
XM_011542841.1:c.8672-6C>A (ATM)	XP_011541143.1:n.8672-6C>A
XM_011542842.1:c.8507-6C>A (ATM)	XP_011541144.1:n.8507-6C>A
XM_011542844.1:c.7628-6C>A (ATM)	XP_011541146.1:n.7628-6C>A
XM_011542845.1:c.7364-6C>A (ATM)	XP_011541147.1:n.7364-6C>A
XM_011542847.1:c.3743-6C>A (ATM)	XP_011541149.1:n.3743-6C>A
NM_001330368.1:c.640+32160G>T (C11orf65)	NP_001317297.1:n.640+32160G>T
NM_001351110.1:c.695-18468G>T (C11orf65)	NP_001338039.1:n.695-18468G>T
NM_001351834.1:c.8672-6C>A (ATM)	NP_001338763.1:n.8672-6C>A
NR_147053.2:n.2301+1155G>T (C11orf65)
XM_005271414.4:c.788-18468G>T (C11orf65)	XP_005271471.1:n.788-18468G>T
XM_005271415.4:c.732-18468G>T (C11orf65)	XP_005271472.1:n.732-18468G>T
XM_005271562.5:c.8672-6C>A (ATM)	XP_005271619.2:n.8672-6C>A
XM_006718843.4:c.8672-6C>A (ATM)	XP_006718906.1:n.8672-6C>A
XM_006718845.2:c.4628-6C>A (ATM)	XP_006718908.1:n.4628-6C>A
XM_011542640.2:c.788-13396G>T (C11orf65)	XP_011540942.1:n.788-13396G>T
XM_011542643.2:c.732-13396G>T (C11orf65)	XP_011540945.1:n.732-13396G>T
XM_011542840.3:c.8672-6C>A (ATM)	XP_011541142.1:n.8672-6C>A
XM_011542842.3:c.8507-6C>A (ATM)	XP_011541144.1:n.8507-6C>A
XM_011542844.3:c.7628-6C>A (ATM)	XP_011541146.1:n.7628-6C>A
XM_011542845.2:c.7364-6C>A (ATM)	XP_011541147.1:n.7364-6C>A
XM_017017247.1:c.904-13396G>T (C11orf65)	XP_016872736.1:n.904-13396G>T
XM_017017789.2:c.8672-6C>A (ATM)	XP_016873278.1:n.8672-6C>A
XM_017017790.2:c.8672-6C>A (ATM)	XP_016873279.1:n.8672-6C>A
NM_001330368.2:c.640+32160G>T (C11orf65)	NP_001317297.1:n.640+32160G>T
NM_001351110.2:c.695-18468G>T (C11orf65)	NP_001338039.1:n.695-18468G>T
NM_001351834.2:c.8672-6C>A (ATM)	NP_001338763.1:n.8672-6C>A
NM_000051.4:c.8672-6C>A (ATM) MANE Select	NP_000042.3:n.8672-6C>A
NR_147053.3:n.2299+1155G>T (C11orf65)