Canonical Allele Identifier: CA671378681

Gene: ATM

Linked Data

• dbSNP Id: rs1220608739
• gnomAD v3: 11-108253852-CAGAAGT-C
• gnomAD v4: 11-108253852-CAGAAGT-C
• MyVariant Identifiers: chr11:g.108124580_108124585del (hg19) ; chr11:g.108253853_108253858del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253858_108253863del , CM000673.2:g.108253858_108253863del	GRCh38
NC_000011.9:g.108124585_108124590del , CM000673.1:g.108124585_108124590del	GRCh37
NC_000011.8:g.107629795_107629800del	NCBI36
NG_009830.1:g.36027_36032del , LRG_135:g.36027_36032del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.1943_1948del	ENSP00000388058.2:p.Val648_Glu649del
ENST00000713593.1:c.*1414_*1419del	ENSP00000518889.1:n.*1414_*1419del
ENST00000278616.9:c.1943_1948del	ENSP00000278616.4:p.Val648_Glu649del
ENST00000682516.1:n.2077_2082del
ENST00000683174.1:n.2093_2098del
ENST00000683605.1:n.1438_1443del
ENST00000684037.1:c.*878_*883del	ENSP00000508245.1:n.*878_*883del
ENST00000684061.1:n.2077_2082del
ENST00000527805.6:c.1943_1948del	ENSP00000435747.2:p.Val648_Glu649del
ENST00000675595.1:c.1778_1783del	ENSP00000502563.1:p.Val593_Glu594del
ENST00000675843.1:c.1943_1948del MANE Select	ENSP00000501606.1:p.Val648_Glu649del
ENST00000278616.8:c.1943_1948del	ENSP00000278616.4:p.Val648_Glu649del
ENST00000452508.6:c.1943_1948del	ENSP00000388058.2:p.Val648_Glu649del
ENST00000525012.5:n.120_125del
ENST00000527805.5:c.1943_1948del	ENSP00000435747.1:p.Val648_Glu649del
ENST00000533526.1:n.96_101del
NM_000051.3:c.1943_1948del , LRG_135t1:c.1943_1948del	NP_000042.3:p.Val648_Glu649del
XM_005271561.3:c.1943_1948del	XP_005271618.2:p.Val648_Glu649del
XM_005271562.3:c.1943_1948del	XP_005271619.2:p.Val648_Glu649del
XM_006718843.2:c.1943_1948del	XP_006718906.1:p.Val648_Glu649del
XM_011542840.1:c.1943_1948del	XP_011541142.1:p.Val648_Glu649del
XM_011542841.1:c.1943_1948del	XP_011541143.1:p.Val648_Glu649del
XM_011542842.1:c.1778_1783del	XP_011541144.1:p.Val593_Glu594del
XM_011542843.1:c.1943_1948del	XP_011541145.1:p.Val648_Glu649del
XM_011542844.1:c.899_904del	XP_011541146.1:p.Val300_Glu301del
XM_011542845.1:c.635_640del	XP_011541147.1:p.Val212_Glu213del
XM_011542846.1:c.1943_1948del	XP_011541148.1:p.Val648_Glu649del
NM_001351834.1:c.1943_1948del	NP_001338763.1:p.Val648_Glu649del
XM_005271562.5:c.1943_1948del	XP_005271619.2:p.Val648_Glu649del
XM_006718843.4:c.1943_1948del	XP_006718906.1:p.Val648_Glu649del
XM_011542840.3:c.1943_1948del	XP_011541142.1:p.Val648_Glu649del
XM_011542842.3:c.1778_1783del	XP_011541144.1:p.Val593_Glu594del
XM_011542843.2:c.1943_1948del	XP_011541145.1:p.Val648_Glu649del
XM_011542844.3:c.899_904del	XP_011541146.1:p.Val300_Glu301del
XM_011542845.2:c.635_640del	XP_011541147.1:p.Val212_Glu213del
XM_017017789.2:c.1943_1948del	XP_016873278.1:p.Val648_Glu649del
XM_017017790.2:c.1943_1948del	XP_016873279.1:p.Val648_Glu649del
XM_017017791.1:c.1943_1948del	XP_016873280.1:p.Val648_Glu649del
XM_017017792.2:c.1943_1948del	XP_016873281.1:p.Val648_Glu649del
XR_002957150.1:n.2676_2681del
NM_001351834.2:c.1943_1948del	NP_001338763.1:p.Val648_Glu649del
NM_000051.4:c.1943_1948del MANE Select	NP_000042.3:p.Val648_Glu649del