Canonical Allele Identifier: CA645369498

Gene: ATM

Linked Data

• ClinVar Variation Id: 429061
• ClinVar RCV Id: RCV000493923 ; RCV001856954
• dbSNP Id: rs1131691148
• gnomAD v4: 11-108267273-CTATT-C
• MyVariant Identifiers: chr11:g.108138003_108138006del (hg19) ; chr11:g.108267276_108267279del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108267276_108267279del , CM000673.2:g.108267276_108267279del	GRCh38
NC_000011.9:g.108138003_108138006del , CM000673.1:g.108138003_108138006del	GRCh37
NC_000011.8:g.107643213_107643216del	NCBI36
NG_009830.1:g.49445_49448del , LRG_135:g.49445_49448del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2572_2575del	ENSP00000388058.2:p.Phe858ThrfsTer21
ENST00000713593.1:c.*2043_*2046del	ENSP00000518889.1:n.*2043_*2046del
ENST00000278616.9:c.2572_2575del	ENSP00000278616.4:p.Phe858ThrfsTer21
ENST00000682516.1:n.2706_2709del
ENST00000683174.1:n.2722_2725del
ENST00000683605.1:n.2067_2070del
ENST00000684037.1:c.*1507_*1510del	ENSP00000508245.1:n.*1507_*1510del
ENST00000527805.6:c.2572_2575del	ENSP00000435747.2:p.Phe858ThrfsTer21
ENST00000675595.1:c.2407_2410del	ENSP00000502563.1:p.Phe803ThrfsTer21
ENST00000675843.1:c.2572_2575del MANE Select	ENSP00000501606.1:p.Phe858ThrfsTer21
ENST00000278616.8:c.2572_2575del	ENSP00000278616.4:p.Phe858ThrfsTer21
ENST00000452508.6:c.2572_2575del	ENSP00000388058.2:p.Phe858ThrfsTer21
ENST00000527805.5:c.2572_2575del	ENSP00000435747.1:p.Phe858ThrfsTer21
NM_000051.3:c.2572_2575del , LRG_135t1:c.2572_2575del	NP_000042.3:p.Phe858ThrfsTer21
XM_005271561.3:c.2572_2575del	XP_005271618.2:p.Phe858ThrfsTer21
XM_005271562.3:c.2572_2575del	XP_005271619.2:p.Phe858ThrfsTer21
XM_006718843.2:c.2572_2575del	XP_006718906.1:p.Phe858ThrfsTer21
XM_011542840.1:c.2572_2575del	XP_011541142.1:p.Phe858ThrfsTer21
XM_011542841.1:c.2572_2575del	XP_011541143.1:p.Phe858ThrfsTer21
XM_011542842.1:c.2407_2410del	XP_011541144.1:p.Phe803ThrfsTer21
XM_011542843.1:c.2572_2575del	XP_011541145.1:p.Phe858ThrfsTer21
XM_011542844.1:c.1528_1531del	XP_011541146.1:p.Phe510ThrfsTer21
XM_011542845.1:c.1264_1267del	XP_011541147.1:p.Phe422ThrfsTer21
XM_011542846.1:c.2572_2575del	XP_011541148.1:p.Phe858ThrfsTer21
NM_001351834.1:c.2572_2575del	NP_001338763.1:p.Phe858ThrfsTer21
XM_005271562.5:c.2572_2575del	XP_005271619.2:p.Phe858ThrfsTer21
XM_006718843.4:c.2572_2575del	XP_006718906.1:p.Phe858ThrfsTer21
XM_011542840.3:c.2572_2575del	XP_011541142.1:p.Phe858ThrfsTer21
XM_011542842.3:c.2407_2410del	XP_011541144.1:p.Phe803ThrfsTer21
XM_011542843.2:c.2572_2575del	XP_011541145.1:p.Phe858ThrfsTer21
XM_011542844.3:c.1528_1531del	XP_011541146.1:p.Phe510ThrfsTer21
XM_011542845.2:c.1264_1267del	XP_011541147.1:p.Phe422ThrfsTer21
XM_017017789.2:c.2572_2575del	XP_016873278.1:p.Phe858ThrfsTer21
XM_017017790.2:c.2572_2575del	XP_016873279.1:p.Phe858ThrfsTer21
XM_017017791.1:c.2572_2575del	XP_016873280.1:p.Phe858ThrfsTer21
XM_017017792.2:c.2572_2575del	XP_016873281.1:p.Phe858ThrfsTer21
XR_002957150.1:n.3305_3308del
NM_001351834.2:c.2572_2575del	NP_001338763.1:p.Phe858ThrfsTer21
NM_000051.4:c.2572_2575del MANE Select	NP_000042.3:p.Phe858ThrfsTer21