Canonical Allele Identifier: CA6264795

Gene: ATM

Linked Data

• dbSNP Id: rs749937005
• ExAC: 11:108121453 TCAAAGTATCCTG / T
• gnomAD v2: 11-108121453-TCAAAGTATCCTG-T
• gnomAD v4: 11-108250726-TCAAAGTATCCTG-T
• MyVariant Identifiers: chr11:g.108121454_108121465del (hg19) ; chr11:g.108250727_108250738del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250730_108250741del , CM000673.2:g.108250730_108250741del	GRCh38
NC_000011.9:g.108121457_108121468del , CM000673.1:g.108121457_108121468del	GRCh37
NC_000011.8:g.107626667_107626678del	NCBI36
NG_009830.1:g.32899_32910del , LRG_135:g.32899_32910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1265_1276del	ENSP00000388058.2:p.Lys422_Ala425del
ENST00000713593.1:c.*736_*747del	ENSP00000518889.1:n.*736_*747del
ENST00000278616.9:c.1265_1276del	ENSP00000278616.4:p.Lys422_Ala425del
ENST00000682516.1:n.1399_1410del
ENST00000682956.1:n.1399_1410del
ENST00000683174.1:n.1415_1426del
ENST00000683605.1:n.760_771del
ENST00000684037.1:c.*200_*211del	ENSP00000508245.1:n.*200_*211del
ENST00000684061.1:n.1399_1410del
ENST00000684179.1:n.1234_1245del
ENST00000527805.6:c.1265_1276del	ENSP00000435747.2:p.Lys422_Ala425del
ENST00000675595.1:c.1100_1111del	ENSP00000502563.1:p.Lys367_Ala370del
ENST00000675843.1:c.1265_1276del MANE Select	ENSP00000501606.1:p.Lys422_Ala425del
ENST00000278616.8:c.1265_1276del	ENSP00000278616.4:p.Lys422_Ala425del
ENST00000452508.6:c.1265_1276del	ENSP00000388058.2:p.Lys422_Ala425del
ENST00000527805.5:c.1265_1276del	ENSP00000435747.1:p.Lys422_Ala425del
NM_000051.3:c.1265_1276del , LRG_135t1:c.1265_1276del	NP_000042.3:p.Lys422_Ala425del
XM_005271561.3:c.1265_1276del	XP_005271618.2:p.Lys422_Ala425del
XM_005271562.3:c.1265_1276del	XP_005271619.2:p.Lys422_Ala425del
XM_006718843.2:c.1265_1276del	XP_006718906.1:p.Lys422_Ala425del
XM_011542840.1:c.1265_1276del	XP_011541142.1:p.Lys422_Ala425del
XM_011542841.1:c.1265_1276del	XP_011541143.1:p.Lys422_Ala425del
XM_011542842.1:c.1100_1111del	XP_011541144.1:p.Lys367_Ala370del
XM_011542843.1:c.1265_1276del	XP_011541145.1:p.Lys422_Ala425del
XM_011542844.1:c.221_232del	XP_011541146.1:p.Lys74_Ala77del
XM_011542845.1:c.-44_-33del	XP_011541147.1:n.-44_-33del
XM_011542846.1:c.1265_1276del	XP_011541148.1:p.Lys422_Ala425del
NM_001351834.1:c.1265_1276del	NP_001338763.1:p.Lys422_Ala425del
XM_005271562.5:c.1265_1276del	XP_005271619.2:p.Lys422_Ala425del
XM_006718843.4:c.1265_1276del	XP_006718906.1:p.Lys422_Ala425del
XM_011542840.3:c.1265_1276del	XP_011541142.1:p.Lys422_Ala425del
XM_011542842.3:c.1100_1111del	XP_011541144.1:p.Lys367_Ala370del
XM_011542843.2:c.1265_1276del	XP_011541145.1:p.Lys422_Ala425del
XM_011542844.3:c.221_232del	XP_011541146.1:p.Lys74_Ala77del
XM_011542845.2:c.-44_-33del	XP_011541147.1:n.-44_-33del
XM_017017789.2:c.1265_1276del	XP_016873278.1:p.Lys422_Ala425del
XM_017017790.2:c.1265_1276del	XP_016873279.1:p.Lys422_Ala425del
XM_017017791.1:c.1265_1276del	XP_016873280.1:p.Lys422_Ala425del
XM_017017792.2:c.1265_1276del	XP_016873281.1:p.Lys422_Ala425del
XR_002957150.1:n.1998_2009del
NM_001351834.2:c.1265_1276del	NP_001338763.1:p.Lys422_Ala425del
NM_000051.4:c.1265_1276del MANE Select	NP_000042.3:p.Lys422_Ala425del