Canonical Allele Identifier: CA913188367

Gene: ATM

Linked Data

• ClinVar Variation Id: 628218
• ClinVar RCV Id: RCV000772561 ; RCV003768332 ; RCV004027241
• dbSNP Id: rs1565375035
• gnomAD v4: 11-108247004-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247006del , CM000673.2:g.108247006del	GRCh38
NC_000011.9:g.108117733del , CM000673.1:g.108117733del	GRCh37
NC_000011.8:g.107622943del	NCBI36
NG_009830.1:g.29175del , LRG_135:g.29175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.944del	ENSP00000388058.2:p.Leu315TyrfsTer5
ENST00000713593.1:c.*415del	ENSP00000518889.1:n.*415del
ENST00000278616.9:c.944del	ENSP00000278616.4:p.Leu315TyrfsTer5
ENST00000682516.1:n.1078del
ENST00000682956.1:n.1078del
ENST00000683100.1:n.3291del
ENST00000683174.1:n.1094del
ENST00000683605.1:n.439del
ENST00000684037.1:c.944del	ENSP00000508245.1:p.Leu315TyrfsTer5
ENST00000684061.1:n.1078del
ENST00000684179.1:n.913del
ENST00000527805.6:c.944del	ENSP00000435747.2:p.Leu315TyrfsTer5
ENST00000675595.1:c.779del	ENSP00000502563.1:p.Leu260TyrfsTer5
ENST00000675843.1:c.944del MANE Select	ENSP00000501606.1:p.Leu315TyrfsTer5
ENST00000278616.8:c.944del	ENSP00000278616.4:p.Leu315TyrfsTer5
ENST00000452508.6:c.944del	ENSP00000388058.2:p.Leu315TyrfsTer5
ENST00000527805.5:c.944del	ENSP00000435747.1:p.Leu315TyrfsTer5
NM_000051.3:c.944del , LRG_135t1:c.944del	NP_000042.3:p.Leu315TyrfsTer5
XM_005271561.3:c.944del	XP_005271618.2:p.Leu315TyrfsTer5
XM_005271562.3:c.944del	XP_005271619.2:p.Leu315TyrfsTer5
XM_006718843.2:c.944del	XP_006718906.1:p.Leu315TyrfsTer5
XM_011542840.1:c.944del	XP_011541142.1:p.Leu315TyrfsTer5
XM_011542841.1:c.944del	XP_011541143.1:p.Leu315TyrfsTer5
XM_011542842.1:c.779del	XP_011541144.1:p.Leu260TyrfsTer5
XM_011542843.1:c.944del	XP_011541145.1:p.Leu315TyrfsTer5
XM_011542844.1:c.-101del	XP_011541146.1:n.-101del
XM_011542846.1:c.944del	XP_011541148.1:p.Leu315TyrfsTer5
NM_001351834.1:c.944del	NP_001338763.1:p.Leu315TyrfsTer5
XM_005271562.5:c.944del	XP_005271619.2:p.Leu315TyrfsTer5
XM_006718843.4:c.944del	XP_006718906.1:p.Leu315TyrfsTer5
XM_011542840.3:c.944del	XP_011541142.1:p.Leu315TyrfsTer5
XM_011542842.3:c.779del	XP_011541144.1:p.Leu260TyrfsTer5
XM_011542843.2:c.944del	XP_011541145.1:p.Leu315TyrfsTer5
XM_011542844.3:c.-101del	XP_011541146.1:n.-101del
XM_017017789.2:c.944del	XP_016873278.1:p.Leu315TyrfsTer5
XM_017017790.2:c.944del	XP_016873279.1:p.Leu315TyrfsTer5
XM_017017791.1:c.944del	XP_016873280.1:p.Leu315TyrfsTer5
XM_017017792.2:c.944del	XP_016873281.1:p.Leu315TyrfsTer5
XR_002957150.1:n.1677del
NM_001351834.2:c.944del	NP_001338763.1:p.Leu315TyrfsTer5
NM_000051.4:c.944del MANE Select	NP_000042.3:p.Leu315TyrfsTer5