Canonical Allele Identifier: CA228385130

Gene: ATM

Linked Data

• dbSNP Id: rs1034665933
• gnomAD v4: 11-108245073-CAT-C
• MyVariant Identifiers: chr11:g.108115801_108115802del (hg19) ; chr11:g.108245074_108245075del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108245075_108245076del , CM000673.2:g.108245075_108245076del	GRCh38
NC_000011.9:g.108115802_108115803del , CM000673.1:g.108115802_108115803del	GRCh37
NC_000011.8:g.107621012_107621013del	NCBI36
NG_009830.1:g.27244_27245del , LRG_135:g.27244_27245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.901+49_901+50del	ENSP00000388058.2:n.901+49_901+50del
ENST00000713593.1:c.*372+49_*372+50del	ENSP00000518889.1:n.*372+49_*372+50del
ENST00000278616.9:c.901+49_901+50del	ENSP00000278616.4:n.901+49_901+50del
ENST00000682516.1:n.1035+49_1035+50del
ENST00000682956.1:n.1035+49_1035+50del
ENST00000683100.1:n.3248+49_3248+50del
ENST00000683174.1:n.1051+49_1051+50del
ENST00000683605.1:n.396+49_396+50del
ENST00000684037.1:c.901+49_901+50del	ENSP00000508245.1:n.901+49_901+50del
ENST00000684061.1:n.1035+49_1035+50del
ENST00000684179.1:n.870+49_870+50del
ENST00000527805.6:c.901+49_901+50del	ENSP00000435747.2:n.901+49_901+50del
ENST00000675595.1:c.736+49_736+50del	ENSP00000502563.1:n.736+49_736+50del
ENST00000675843.1:c.901+49_901+50del MANE Select	ENSP00000501606.1:n.901+49_901+50del
ENST00000278616.8:c.901+49_901+50del	ENSP00000278616.4:n.901+49_901+50del
ENST00000452508.6:c.901+49_901+50del	ENSP00000388058.2:n.901+49_901+50del
ENST00000527805.5:c.901+49_901+50del	ENSP00000435747.1:n.901+49_901+50del
NM_000051.3:c.901+49_901+50del , LRG_135t1:c.901+49_901+50del	NP_000042.3:n.901+49_901+50del
XM_005271561.3:c.901+49_901+50del	XP_005271618.2:n.901+49_901+50del
XM_005271562.3:c.901+49_901+50del	XP_005271619.2:n.901+49_901+50del
XM_006718843.2:c.901+49_901+50del	XP_006718906.1:n.901+49_901+50del
XM_011542840.1:c.901+49_901+50del	XP_011541142.1:n.901+49_901+50del
XM_011542841.1:c.901+49_901+50del	XP_011541143.1:n.901+49_901+50del
XM_011542842.1:c.736+49_736+50del	XP_011541144.1:n.736+49_736+50del
XM_011542843.1:c.901+49_901+50del	XP_011541145.1:n.901+49_901+50del
XM_011542844.1:c.-144+49_-144+50del	XP_011541146.1:n.-144+49_-144+50del
XM_011542846.1:c.901+49_901+50del	XP_011541148.1:n.901+49_901+50del
NM_001351834.1:c.901+49_901+50del	NP_001338763.1:n.901+49_901+50del
XM_005271562.5:c.901+49_901+50del	XP_005271619.2:n.901+49_901+50del
XM_006718843.4:c.901+49_901+50del	XP_006718906.1:n.901+49_901+50del
XM_011542840.3:c.901+49_901+50del	XP_011541142.1:n.901+49_901+50del
XM_011542842.3:c.736+49_736+50del	XP_011541144.1:n.736+49_736+50del
XM_011542843.2:c.901+49_901+50del	XP_011541145.1:n.901+49_901+50del
XM_011542844.3:c.-144+49_-144+50del	XP_011541146.1:n.-144+49_-144+50del
XM_017017789.2:c.901+49_901+50del	XP_016873278.1:n.901+49_901+50del
XM_017017790.2:c.901+49_901+50del	XP_016873279.1:n.901+49_901+50del
XM_017017791.1:c.901+49_901+50del	XP_016873280.1:n.901+49_901+50del
XM_017017792.2:c.901+49_901+50del	XP_016873281.1:n.901+49_901+50del
XR_002957150.1:n.1634+49_1634+50del
NM_001351834.2:c.901+49_901+50del	NP_001338763.1:n.901+49_901+50del
NM_000051.4:c.901+49_901+50del MANE Select	NP_000042.3:n.901+49_901+50del