Canonical Allele Identifier: CA913189714

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 633054
• ClinVar RCV Id: RCV000780891

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325816_108331169del , CM000673.2:g.108325816_108331169del	GRCh38
NC_000011.9:g.108196543_108201896del , CM000673.1:g.108196543_108201896del	GRCh37
NC_000011.8:g.107701753_107707106del	NCBI36
NG_009830.1:g.107985_113338del , LRG_135:g.107985_113338del
NG_054724.1:g.143664_149017del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6808-242_7516-275del (ATM)
ENST00000713593.1:c.*6279-242_*6987-275del (ATM)
ENST00000278616.9:c.6808-242_7516-275del (ATM)
ENST00000525056.2:n.1227-242_1935-275del (ATM)
ENST00000682286.1:n.1565-242_2273-275del (ATM)
ENST00000682302.1:n.1226-242_1934-275del (ATM)
ENST00000683174.1:n.8292-242_9000-275del (ATM)
ENST00000683524.1:n.2032-242_2740-275del (ATM)
ENST00000684152.1:n.2522-242_3230-275del (ATM)
ENST00000527805.6:c.*1872-242_*2580-275del (ATM)
ENST00000675595.1:c.*1943-242_*2651-275del (ATM)
ENST00000675843.1:c.6808-242_7516-275del (ATM)
ENST00000278616.8:c.6808-242_7516-275del (ATM)
ENST00000452508.6:c.6808-242_7516-275del (ATM)
ENST00000524792.5:n.3023-242_3731-275del (ATM)
ENST00000525729.5:c.641-22098_641-16745del (C11orf65)	ENSP00000433395.1:n.641-22098_641-16745de...
ENST00000533690.5:n.2212-242_2920-275del (ATM)
NM_000051.3:c.6808-242_7516-275del , LRG_135t1:c.6808-242_7516-275del (ATM)
XM_005271561.3:c.6808-242_7516-275del (ATM)
XM_005271562.3:c.6808-242_7516-275del (ATM)
XM_006718843.2:c.6808-242_7516-275del (ATM)
XM_006718845.1:c.2764-242_3472-275del (ATM)
XM_011542840.1:c.6808-242_7516-275del (ATM)
XM_011542841.1:c.6808-242_7516-275del (ATM)
XM_011542842.1:c.6643-242_7351-275del (ATM)
XM_011542843.1:c.6808-242_7516-275del (ATM)
XM_011542844.1:c.5764-242_6472-275del (ATM)
XM_011542845.1:c.5500-242_6208-275del (ATM)
XM_011542847.1:c.1879-242_2587-275del (ATM)
NM_001330368.1:c.641-22098_641-16745del (C11orf65)	NP_001317297.1:n.641-22098_641-16745del
NM_001351110.1:c.*38+4051_*38+9404del (C11orf65)	NP_001338039.1:n.*38+4051_*38+9404del
NM_001351834.1:c.6808-242_7516-275del (ATM)
XM_005271562.5:c.6808-242_7516-275del (ATM)
XM_006718843.4:c.6808-242_7516-275del (ATM)
XM_006718845.2:c.2764-242_3472-275del (ATM)
XM_011542840.3:c.6808-242_7516-275del (ATM)
XM_011542842.3:c.6643-242_7351-275del (ATM)
XM_011542843.2:c.6808-242_7516-275del (ATM)
XM_011542844.3:c.5764-242_6472-275del (ATM)
XM_011542845.2:c.5500-242_6208-275del (ATM)
XM_017017789.2:c.6808-242_7516-275del (ATM)
XM_017017790.2:c.6808-242_7516-275del (ATM)
NM_001330368.2:c.641-22098_641-16745del (C11orf65)	NP_001317297.1:n.641-22098_641-16745del
NM_001351110.2:c.*38+4051_*38+9404del (C11orf65)	NP_001338039.1:n.*38+4051_*38+9404del
NM_001351834.2:c.6808-242_7516-275del (ATM)
NM_000051.4:c.6808-242_7516-275del (ATM)