Canonical Allele Identifier: CA228364485

Gene: ATM

Linked Data

• ClinVar Variation Id: 1256954
• ClinVar RCV Id: RCV001666104
• dbSNP Id: rs1008003068
• gnomAD v2: 11-108093917-G-C
• gnomAD v3: 11-108223190-G-C
• gnomAD v4: 11-108223190-G-C
• MyVariant Identifiers: chr11:g.108093917G>C (hg19) ; chr11:g.108223190G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223190G>C , CM000673.2:g.108223190G>C	GRCh38
NC_000011.9:g.108093917G>C , CM000673.1:g.108093917G>C	GRCh37
NC_000011.8:g.107599127G>C	NCBI36
NG_009830.1:g.5359G>C , LRG_135:g.5359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-119+4G>C	ENSP00000388058.2:n.-119+4G>C
ENST00000683914.2:c.-31+4G>C	ENSP00000507649.1:n.-31+4G>C
ENST00000713593.1:c.-31+4G>C	ENSP00000518889.1:n.-31+4G>C
ENST00000683150.1:c.-182+4G>C	ENSP00000507125.1:n.-182+4G>C
ENST00000683174.1:n.120+4G>C
ENST00000683468.1:c.-4435G>C	ENSP00000508178.1:n.-4435G>C
ENST00000683488.1:n.147G>C
ENST00000683914.1:c.-31+4G>C	ENSP00000507649.1:n.-31+4G>C
ENST00000527805.6:c.-31+4G>C	ENSP00000435747.2:n.-31+4G>C
ENST00000639240.1:c.-115+4G>C	ENSP00000491585.1:n.-115+4G>C
ENST00000639953.1:c.-203+4G>C	ENSP00000492487.1:n.-203+4G>C
ENST00000640388.1:c.-193+4G>C	ENSP00000492354.1:n.-193+4G>C
ENST00000675595.1:c.-31+4G>C	ENSP00000502563.1:n.-31+4G>C
ENST00000675843.1:c.-31+4G>C MANE Select	ENSP00000501606.1:n.-31+4G>C
ENST00000278616.8:c.-31+4G>C	ENSP00000278616.4:n.-31+4G>C
ENST00000452508.6:c.-119+4G>C	ENSP00000388058.2:n.-119+4G>C
ENST00000527805.5:c.-31+4G>C	ENSP00000435747.1:n.-31+4G>C
ENST00000527891.5:c.-31+4G>C	ENSP00000433955.1:n.-31+4G>C
ENST00000530958.5:c.-4435G>C	ENSP00000483338.1:n.-4435G>C
ENST00000532931.5:c.-105+4G>C	ENSP00000432318.1:n.-105+4G>C
NM_000051.3:c.-31+4G>C , LRG_135t1:c.-31+4G>C	NP_000042.3:n.-31+4G>C
XM_005271561.3:c.-119+4G>C	XP_005271618.2:n.-119+4G>C
XM_011542841.1:c.-822+4G>C	XP_011541143.1:n.-822+4G>C
XM_011542842.1:c.-31+4G>C	XP_011541144.1:n.-31+4G>C
XM_011542843.1:c.-31+4G>C	XP_011541145.1:n.-31+4G>C
XM_011542846.1:c.-31+4G>C	XP_011541148.1:n.-31+4G>C
NM_001351834.1:c.-119+4G>C	NP_001338763.1:n.-119+4G>C
NM_001351835.1:c.-31+4G>C	NP_001338764.1:n.-31+4G>C
XM_011542842.3:c.-31+4G>C	XP_011541144.1:n.-31+4G>C
XM_011542843.2:c.-31+4G>C	XP_011541145.1:n.-31+4G>C
XM_011542844.3:c.-1053+4G>C	XP_011541146.1:n.-1053+4G>C
XM_017017791.1:c.-31+4G>C	XP_016873280.1:n.-31+4G>C
XM_017017792.2:c.-31+4G>C	XP_016873281.1:n.-31+4G>C
XR_002957150.1:n.703+4G>C
NM_001351834.2:c.-119+4G>C	NP_001338763.1:n.-119+4G>C
NM_000051.4:c.-31+4G>C MANE Select	NP_000042.3:n.-31+4G>C
NM_001351835.2:c.-31+4G>C	NP_001338764.1:n.-31+4G>C