Canonical Allele Identifier: CA2615844915

Gene: ATM

Linked Data

• gnomAD v4: 11-108222985-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108222986del , CM000673.2:g.108222986del	GRCh38
NC_000011.9:g.108093713del , CM000673.1:g.108093713del	GRCh37
NC_000011.8:g.107598923del	NCBI36
NG_009830.1:g.5155del , LRG_135:g.5155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-319del	ENSP00000388058.2:n.-319del
ENST00000683914.2:c.-231del	ENSP00000507649.1:n.-231del
ENST00000278616.8:c.-231del	ENSP00000278616.4:n.-231del
ENST00000527805.5:c.-231del	ENSP00000435747.1:n.-231del
NM_000051.3:c.-231del , LRG_135t1:c.-231del	NP_000042.3:n.-231del
XM_011542843.1:c.-231del	XP_011541145.1:n.-231del
XM_011542846.1:c.-231del	XP_011541148.1:n.-231del
NM_001351834.1:c.-319del	NP_001338763.1:n.-319del
NM_001351835.1:c.-231del	NP_001338764.1:n.-231del
XM_011542842.3:c.-231del	XP_011541144.1:n.-231del
XM_011542843.2:c.-231del	XP_011541145.1:n.-231del
XM_011542844.3:c.-1253del	XP_011541146.1:n.-1253del
XM_017017791.1:c.-231del	XP_016873280.1:n.-231del
XM_017017792.2:c.-231del	XP_016873281.1:n.-231del
XR_002957150.1:n.503del