Canonical Allele Identifier: CA2582342458

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2587785
• ClinVar RCV Id: RCV003350786

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108310142_108310169del , CM000673.2:g.108310142_108310169del	GRCh38
NC_000011.9:g.108180869_108180896del , CM000673.1:g.108180869_108180896del	GRCh37
NC_000011.8:g.107686079_107686106del	NCBI36
NG_009830.1:g.92311_92338del , LRG_135:g.92311_92338del
NG_054724.1:g.164665_164692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5763-18_5772del (ATM)
ENST00000713593.1:c.*5234-18_*5243del (ATM)
ENST00000278616.9:c.5763-18_5772del (ATM)
ENST00000525056.2:n.182-18_191del (ATM)
ENST00000682286.1:n.520-18_529del (ATM)
ENST00000682302.1:n.181-18_190del (ATM)
ENST00000683174.1:n.7247-18_7256del (ATM)
ENST00000683524.1:n.987-18_996del (ATM)
ENST00000684152.1:n.1477-18_1486del (ATM)
ENST00000527805.6:c.*827-18_*836del (ATM)
ENST00000675595.1:c.*827-18_*836del (ATM)
ENST00000675843.1:c.5763-18_5772del (ATM)
ENST00000278616.8:c.5763-18_5772del (ATM)
ENST00000452508.6:c.5763-18_5772del (ATM)
ENST00000524792.5:n.1978-18_1987del (ATM)
ENST00000525729.5:c.641-1097_641-1070del (C11orf65)	ENSP00000433395.1:n.641-1097_641-1070del
ENST00000529588.5:c.187-18_196del (ATM)
ENST00000532765.1:n.80-18_89del (ATM)
ENST00000533690.5:n.1167-18_1176del (ATM)
NM_000051.3:c.5763-18_5772del , LRG_135t1:c.5763-18_5772del (ATM)
XM_005271561.3:c.5763-18_5772del (ATM)
XM_005271562.3:c.5763-18_5772del (ATM)
XM_006718843.2:c.5763-18_5772del (ATM)
XM_006718845.1:c.1719-18_1728del (ATM)
XM_011542840.1:c.5763-18_5772del (ATM)
XM_011542841.1:c.5763-18_5772del (ATM)
XM_011542842.1:c.5598-18_5607del (ATM)
XM_011542843.1:c.5763-18_5772del (ATM)
XM_011542844.1:c.4719-18_4728del (ATM)
XM_011542845.1:c.4455-18_4464del (ATM)
XM_011542847.1:c.834-18_843del (ATM)
NM_001330368.1:c.641-1097_641-1070del (C11orf65)	NP_001317297.1:n.641-1097_641-1070del
NM_001351110.1:c.*39-1097_*39-1070del (C11orf65)	NP_001338039.1:n.*39-1097_*39-1070del
NM_001351834.1:c.5763-18_5772del (ATM)
XM_005271562.5:c.5763-18_5772del (ATM)
XM_006718843.4:c.5763-18_5772del (ATM)
XM_006718845.2:c.1719-18_1728del (ATM)
XM_011542840.3:c.5763-18_5772del (ATM)
XM_011542842.3:c.5598-18_5607del (ATM)
XM_011542843.2:c.5763-18_5772del (ATM)
XM_011542844.3:c.4719-18_4728del (ATM)
XM_011542845.2:c.4455-18_4464del (ATM)
XM_017017789.2:c.5763-18_5772del (ATM)
XM_017017790.2:c.5763-18_5772del (ATM)
XM_017017791.1:c.5763-18_5772del (ATM)
XR_002957150.1:n.6363-18_6372del (ATM)
NM_001330368.2:c.641-1097_641-1070del (C11orf65)	NP_001317297.1:n.641-1097_641-1070del
NM_001351110.2:c.*39-1097_*39-1070del (C11orf65)	NP_001338039.1:n.*39-1097_*39-1070del
NM_001351834.2:c.5763-18_5772del (ATM)
NM_000051.4:c.5763-18_5772del (ATM)