Canonical Allele Identifier: CA942024584

Gene: ATM

Linked Data

• ClinVar Variation Id: 2165201
• ClinVar RCV Id: RCV003084248
• dbSNP Id: rs2083447373
• gnomAD v3: 11-108301791-TCTC-T
• gnomAD v4: 11-108301791-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108301792_108301794del , CM000673.2:g.108301792_108301794del	GRCh38
NC_000011.9:g.108172519_108172521del , CM000673.1:g.108172519_108172521del	GRCh37
NC_000011.8:g.107677729_107677731del	NCBI36
NG_009830.1:g.83961_83963del , LRG_135:g.83961_83963del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5319+3_5319+5del	ENSP00000388058.2:n.5319+3_5319+5del
ENST00000713593.1:c.*4790+3_*4790+5del	ENSP00000518889.1:n.*4790+3_*4790+5del
ENST00000278616.9:c.5319+3_5319+5del	ENSP00000278616.4:n.5319+3_5319+5del
ENST00000683174.1:n.6803+3_6803+5del
ENST00000683524.1:n.543+3_543+5del
ENST00000684152.1:n.1033+3_1033+5del
ENST00000527805.6:c.*383+3_*383+5del	ENSP00000435747.2:n.*383+3_*383+5del
ENST00000675595.1:c.*383+3_*383+5del	ENSP00000502563.1:n.*383+3_*383+5del
ENST00000675843.1:c.5319+3_5319+5del MANE Select	ENSP00000501606.1:n.5319+3_5319+5del
ENST00000278616.8:c.5319+3_5319+5del	ENSP00000278616.4:n.5319+3_5319+5del
ENST00000452508.6:c.5319+3_5319+5del	ENSP00000388058.2:n.5319+3_5319+5del
ENST00000524792.5:n.1534+3_1534+5del
ENST00000533690.5:n.723+3_723+5del
ENST00000534625.1:n.548+3_548+5del
NM_000051.3:c.5319+3_5319+5del , LRG_135t1:c.5319+3_5319+5del	NP_000042.3:n.5319+3_5319+5del
XM_005271561.3:c.5319+3_5319+5del	XP_005271618.2:n.5319+3_5319+5del
XM_005271562.3:c.5319+3_5319+5del	XP_005271619.2:n.5319+3_5319+5del
XM_006718843.2:c.5319+3_5319+5del	XP_006718906.1:n.5319+3_5319+5del
XM_006718845.1:c.1275+3_1275+5del	XP_006718908.1:n.1275+3_1275+5del
XM_011542840.1:c.5319+3_5319+5del	XP_011541142.1:n.5319+3_5319+5del
XM_011542841.1:c.5319+3_5319+5del	XP_011541143.1:n.5319+3_5319+5del
XM_011542842.1:c.5154+3_5154+5del	XP_011541144.1:n.5154+3_5154+5del
XM_011542843.1:c.5319+3_5319+5del	XP_011541145.1:n.5319+3_5319+5del
XM_011542844.1:c.4275+3_4275+5del	XP_011541146.1:n.4275+3_4275+5del
XM_011542845.1:c.4011+3_4011+5del	XP_011541147.1:n.4011+3_4011+5del
XM_011542846.1:c.5318+4_5318+6del	XP_011541148.1:n.5318+4_5318+6del
XM_011542847.1:c.390+3_390+5del	XP_011541149.1:n.390+3_390+5del
NM_001351834.1:c.5319+3_5319+5del	NP_001338763.1:n.5319+3_5319+5del
XM_005271562.5:c.5319+3_5319+5del	XP_005271619.2:n.5319+3_5319+5del
XM_006718843.4:c.5319+3_5319+5del	XP_006718906.1:n.5319+3_5319+5del
XM_006718845.2:c.1275+3_1275+5del	XP_006718908.1:n.1275+3_1275+5del
XM_011542840.3:c.5319+3_5319+5del	XP_011541142.1:n.5319+3_5319+5del
XM_011542842.3:c.5154+3_5154+5del	XP_011541144.1:n.5154+3_5154+5del
XM_011542843.2:c.5319+3_5319+5del	XP_011541145.1:n.5319+3_5319+5del
XM_011542844.3:c.4275+3_4275+5del	XP_011541146.1:n.4275+3_4275+5del
XM_011542845.2:c.4011+3_4011+5del	XP_011541147.1:n.4011+3_4011+5del
XM_017017789.2:c.5319+3_5319+5del	XP_016873278.1:n.5319+3_5319+5del
XM_017017790.2:c.5319+3_5319+5del	XP_016873279.1:n.5319+3_5319+5del
XM_017017791.1:c.5319+3_5319+5del	XP_016873280.1:n.5319+3_5319+5del
XM_017017792.2:c.5322_5324del	XP_016873281.1:p.Ser1775del
XR_002957150.1:n.5919+3_5919+5del
NM_001351834.2:c.5319+3_5319+5del	NP_001338763.1:n.5319+3_5319+5del
NM_000051.4:c.5319+3_5319+5del MANE Select	NP_000042.3:n.5319+3_5319+5del