Canonical Allele Identifier: CA286953

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 127432
• ClinVar RCV Id: RCV000115237 ; RCV000456935 ; RCV004019608
• dbSNP Id: rs587779859
• MyVariant Identifiers: chr11:g.108198362_108198385del (hg19) ; chr11:g.108327635_108327658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327635_108327658del , CM000673.2:g.108327635_108327658del	GRCh38
NC_000011.9:g.108198362_108198385del , CM000673.1:g.108198362_108198385del	GRCh37
NC_000011.8:g.107703572_107703595del	NCBI36
NG_009830.1:g.109804_109827del , LRG_135:g.109804_109827del
NG_054724.1:g.147176_147199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6976-10_6989del (ATM)
ENST00000713593.1:c.*6447-10_*6460del (ATM)
ENST00000278616.9:c.6976-10_6989del (ATM)
ENST00000525056.2:n.1395-10_1408del (ATM)
ENST00000682286.1:n.1733-10_1746del (ATM)
ENST00000682302.1:n.1394-10_1407del (ATM)
ENST00000683174.1:n.8460-10_8473del (ATM)
ENST00000683524.1:n.2200-10_2213del (ATM)
ENST00000684152.1:n.2690-10_2703del (ATM)
ENST00000684447.1:n.1429_1452del (ATM)
ENST00000527805.6:c.*2040-10_*2053del (ATM)
ENST00000675595.1:c.*2111-10_*2124del (ATM)
ENST00000675843.1:c.6976-10_6989del (ATM)
ENST00000278616.8:c.6976-10_6989del (ATM)
ENST00000452508.6:c.6976-10_6989del (ATM)
ENST00000524792.5:n.3191-10_3204del (ATM)
ENST00000525537.2:n.242_265del (ATM)
ENST00000525729.5:c.641-18586_641-18563del (C11orf65)	ENSP00000433395.1:n.641-18586_641-18563del
ENST00000533690.5:n.2380-10_2393del (ATM)
NM_000051.3:c.6976-10_6989del , LRG_135t1:c.6976-10_6989del (ATM)
XM_005271561.3:c.6976-10_6989del (ATM)
XM_005271562.3:c.6976-10_6989del (ATM)
XM_006718843.2:c.6976-10_6989del (ATM)
XM_006718845.1:c.2932-10_2945del (ATM)
XM_011542840.1:c.6976-10_6989del (ATM)
XM_011542841.1:c.6976-10_6989del (ATM)
XM_011542842.1:c.6811-10_6824del (ATM)
XM_011542843.1:c.6976-10_6989del (ATM)
XM_011542844.1:c.5932-10_5945del (ATM)
XM_011542845.1:c.5668-10_5681del (ATM)
XM_011542847.1:c.2047-10_2060del (ATM)
NM_001330368.1:c.641-18586_641-18563del (C11orf65)	NP_001317297.1:n.641-18586_641-18563del
NM_001351110.1:c.*38+7563_*38+7586del (C11orf65)	NP_001338039.1:n.*38+7563_*38+7586del
NM_001351834.1:c.6976-10_6989del (ATM)
XM_005271562.5:c.6976-10_6989del (ATM)
XM_006718843.4:c.6976-10_6989del (ATM)
XM_006718845.2:c.2932-10_2945del (ATM)
XM_011542840.3:c.6976-10_6989del (ATM)
XM_011542842.3:c.6811-10_6824del (ATM)
XM_011542843.2:c.6976-10_6989del (ATM)
XM_011542844.3:c.5932-10_5945del (ATM)
XM_011542845.2:c.5668-10_5681del (ATM)
XM_017017789.2:c.6976-10_6989del (ATM)
XM_017017790.2:c.6976-10_6989del (ATM)
NM_001330368.2:c.641-18586_641-18563del (C11orf65)	NP_001317297.1:n.641-18586_641-18563del
NM_001351110.2:c.*38+7563_*38+7586del (C11orf65)	NP_001338039.1:n.*38+7563_*38+7586del
NM_001351834.2:c.6976-10_6989del (ATM)
NM_000051.4:c.6976-10_6989del (ATM)