Canonical Allele Identifier: CA2573146692

Gene: ATM

Linked Data

• ClinVar Variation Id: 1456106
• ClinVar RCV Id: RCV001950981
• dbSNP Id: rs2135710049

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108284467_108284474del , CM000673.2:g.108284467_108284474del	GRCh38
NC_000011.9:g.108155194_108155201del , CM000673.1:g.108155194_108155201del	GRCh37
NC_000011.8:g.107660404_107660411del	NCBI36
NG_009830.1:g.66636_66643del , LRG_135:g.66636_66643del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.3987_3993+1del
ENST00000713593.1:c.*3458_*3464+1del
ENST00000278616.9:c.3987_3993+1del
ENST00000682289.1:n.334_341del
ENST00000683174.1:n.4137_4143+1del
ENST00000527805.6:c.3987_3993+1del
ENST00000675595.1:c.3822_3828+1del
ENST00000675843.1:c.3987_3993+1del
ENST00000278616.8:c.3987_3993+1del
ENST00000452508.6:c.3987_3993+1del
ENST00000527805.5:c.3987_3993+1del
NM_000051.3:c.3987_3993+1del , LRG_135t1:c.3987_3993+1del
XM_005271561.3:c.3987_3993+1del
XM_005271562.3:c.3987_3993+1del
XM_006718843.2:c.3987_3993+1del
XM_011542840.1:c.3987_3993+1del
XM_011542841.1:c.3987_3993+1del
XM_011542842.1:c.3822_3828+1del
XM_011542843.1:c.3987_3993+1del
XM_011542844.1:c.2943_2949+1del
XM_011542845.1:c.2679_2685+1del
XM_011542846.1:c.3987_3993+1del
NM_001351834.1:c.3987_3993+1del
XM_005271562.5:c.3987_3993+1del
XM_006718843.4:c.3987_3993+1del
XM_011542840.3:c.3987_3993+1del
XM_011542842.3:c.3822_3828+1del
XM_011542843.2:c.3987_3993+1del
XM_011542844.3:c.2943_2949+1del
XM_011542845.2:c.2679_2685+1del
XM_017017789.2:c.3987_3993+1del
XM_017017790.2:c.3987_3993+1del
XM_017017791.1:c.3987_3993+1del
XM_017017792.2:c.3987_3993+1del
XR_002957150.1:n.4720_4726+1del
NM_001351834.2:c.3987_3993+1del
NM_000051.4:c.3987_3993+1del