Canonical Allele Identifier: CA286775

Gene: ATM

Linked Data

• ClinVar Variation Id: 127357
• ClinVar RCV Id: RCV000115162 ; RCV000211986 ; RCV000477335 ; RCV001171402 ; RCV003330437
• dbSNP Id: rs587779826
• gnomAD v2: 11-108138071-T-C
• gnomAD v4: 11-108267344-T-C
• MyVariant Identifiers: chr11:g.108138071T>C (hg19) ; chr11:g.108267344T>C (hg38)
• PubMed: PMID:26845104

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108267344T>C , CM000673.2:g.108267344T>C	GRCh38
NC_000011.9:g.108138071T>C , CM000673.1:g.108138071T>C	GRCh37
NC_000011.8:g.107643281T>C	NCBI36
NG_009830.1:g.49513T>C , LRG_135:g.49513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2638+2T>C	ENSP00000388058.2:n.2638+2T>C
ENST00000713593.1:c.*2109+2T>C	ENSP00000518889.1:n.*2109+2T>C
ENST00000278616.9:c.2638+2T>C	ENSP00000278616.4:n.2638+2T>C
ENST00000682516.1:n.2772+2T>C
ENST00000683174.1:n.2788+2T>C
ENST00000683605.1:n.2135T>C
ENST00000684037.1:c.*1573+2T>C	ENSP00000508245.1:n.*1573+2T>C
ENST00000527805.6:c.2638+2T>C	ENSP00000435747.2:n.2638+2T>C
ENST00000675595.1:c.2473+2T>C	ENSP00000502563.1:n.2473+2T>C
ENST00000675843.1:c.2638+2T>C MANE Select	ENSP00000501606.1:n.2638+2T>C
ENST00000278616.8:c.2638+2T>C	ENSP00000278616.4:n.2638+2T>C
ENST00000452508.6:c.2638+2T>C	ENSP00000388058.2:n.2638+2T>C
ENST00000527805.5:c.2638+2T>C	ENSP00000435747.1:n.2638+2T>C
NM_000051.3:c.2638+2T>C , LRG_135t1:c.2638+2T>C	NP_000042.3:n.2638+2T>C
XM_005271561.3:c.2638+2T>C	XP_005271618.2:n.2638+2T>C
XM_005271562.3:c.2638+2T>C	XP_005271619.2:n.2638+2T>C
XM_006718843.2:c.2638+2T>C	XP_006718906.1:n.2638+2T>C
XM_011542840.1:c.2638+2T>C	XP_011541142.1:n.2638+2T>C
XM_011542841.1:c.2638+2T>C	XP_011541143.1:n.2638+2T>C
XM_011542842.1:c.2473+2T>C	XP_011541144.1:n.2473+2T>C
XM_011542843.1:c.2638+2T>C	XP_011541145.1:n.2638+2T>C
XM_011542844.1:c.1594+2T>C	XP_011541146.1:n.1594+2T>C
XM_011542845.1:c.1330+2T>C	XP_011541147.1:n.1330+2T>C
XM_011542846.1:c.2638+2T>C	XP_011541148.1:n.2638+2T>C
NM_001351834.1:c.2638+2T>C	NP_001338763.1:n.2638+2T>C
XM_005271562.5:c.2638+2T>C	XP_005271619.2:n.2638+2T>C
XM_006718843.4:c.2638+2T>C	XP_006718906.1:n.2638+2T>C
XM_011542840.3:c.2638+2T>C	XP_011541142.1:n.2638+2T>C
XM_011542842.3:c.2473+2T>C	XP_011541144.1:n.2473+2T>C
XM_011542843.2:c.2638+2T>C	XP_011541145.1:n.2638+2T>C
XM_011542844.3:c.1594+2T>C	XP_011541146.1:n.1594+2T>C
XM_011542845.2:c.1330+2T>C	XP_011541147.1:n.1330+2T>C
XM_017017789.2:c.2638+2T>C	XP_016873278.1:n.2638+2T>C
XM_017017790.2:c.2638+2T>C	XP_016873279.1:n.2638+2T>C
XM_017017791.1:c.2638+2T>C	XP_016873280.1:n.2638+2T>C
XM_017017792.2:c.2638+2T>C	XP_016873281.1:n.2638+2T>C
XR_002957150.1:n.3371+2T>C
NM_001351834.2:c.2638+2T>C	NP_001338763.1:n.2638+2T>C
NM_000051.4:c.2638+2T>C MANE Select	NP_000042.3:n.2638+2T>C