Canonical Allele Identifier: CA2615851031

Gene: ATM

Linked Data

• gnomAD v4: 11-108289476-GTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289479_108289481del , CM000673.2:g.108289479_108289481del	GRCh38
NC_000011.9:g.108160206_108160208del , CM000673.1:g.108160206_108160208del	GRCh37
NC_000011.8:g.107665416_107665418del	NCBI36
NG_009830.1:g.71648_71650del , LRG_135:g.71648_71650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4237-123_4237-121del	ENSP00000388058.2:n.4237-123_4237-121del
ENST00000713593.1:c.*3708-123_*3708-121del	ENSP00000518889.1:n.*3708-123_*3708-121del
ENST00000278616.9:c.4237-123_4237-121del	ENSP00000278616.4:n.4237-123_4237-121del
ENST00000533733.6:n.1500-123_1500-121del
ENST00000683174.1:n.4387-123_4387-121del
ENST00000527805.6:c.4237-123_4237-121del	ENSP00000435747.2:n.4237-123_4237-121del
ENST00000675595.1:c.4072-123_4072-121del	ENSP00000502563.1:n.4072-123_4072-121del
ENST00000675843.1:c.4237-123_4237-121del MANE Select	ENSP00000501606.1:n.4237-123_4237-121del
ENST00000278616.8:c.4237-123_4237-121del	ENSP00000278616.4:n.4237-123_4237-121del
ENST00000452508.6:c.4237-123_4237-121del	ENSP00000388058.2:n.4237-123_4237-121del
ENST00000524792.5:n.452-123_452-121del
ENST00000531525.2:c.244-123_244-121del	ENSP00000434327.2:n.244-123_244-121del
ENST00000533733.5:n.666-123_666-121del
NM_000051.3:c.4237-123_4237-121del , LRG_135t1:c.4237-123_4237-121del	NP_000042.3:n.4237-123_4237-121del
XM_005271561.3:c.4237-123_4237-121del	XP_005271618.2:n.4237-123_4237-121del
XM_005271562.3:c.4237-123_4237-121del	XP_005271619.2:n.4237-123_4237-121del
XM_006718843.2:c.4237-123_4237-121del	XP_006718906.1:n.4237-123_4237-121del
XM_006718845.1:c.193-123_193-121del	XP_006718908.1:n.193-123_193-121del
XM_011542840.1:c.4237-123_4237-121del	XP_011541142.1:n.4237-123_4237-121del
XM_011542841.1:c.4237-123_4237-121del	XP_011541143.1:n.4237-123_4237-121del
XM_011542842.1:c.4072-123_4072-121del	XP_011541144.1:n.4072-123_4072-121del
XM_011542843.1:c.4237-123_4237-121del	XP_011541145.1:n.4237-123_4237-121del
XM_011542844.1:c.3193-123_3193-121del	XP_011541146.1:n.3193-123_3193-121del
XM_011542845.1:c.2929-123_2929-121del	XP_011541147.1:n.2929-123_2929-121del
XM_011542846.1:c.4237-123_4237-121del	XP_011541148.1:n.4237-123_4237-121del
NM_001351834.1:c.4237-123_4237-121del	NP_001338763.1:n.4237-123_4237-121del
XM_005271562.5:c.4237-123_4237-121del	XP_005271619.2:n.4237-123_4237-121del
XM_006718843.4:c.4237-123_4237-121del	XP_006718906.1:n.4237-123_4237-121del
XM_006718845.2:c.193-123_193-121del	XP_006718908.1:n.193-123_193-121del
XM_011542840.3:c.4237-123_4237-121del	XP_011541142.1:n.4237-123_4237-121del
XM_011542842.3:c.4072-123_4072-121del	XP_011541144.1:n.4072-123_4072-121del
XM_011542843.2:c.4237-123_4237-121del	XP_011541145.1:n.4237-123_4237-121del
XM_011542844.3:c.3193-123_3193-121del	XP_011541146.1:n.3193-123_3193-121del
XM_011542845.2:c.2929-123_2929-121del	XP_011541147.1:n.2929-123_2929-121del
XM_017017789.2:c.4237-123_4237-121del	XP_016873278.1:n.4237-123_4237-121del
XM_017017790.2:c.4237-123_4237-121del	XP_016873279.1:n.4237-123_4237-121del
XM_017017791.1:c.4237-123_4237-121del	XP_016873280.1:n.4237-123_4237-121del
XM_017017792.2:c.4237-123_4237-121del	XP_016873281.1:n.4237-123_4237-121del
XR_002957150.1:n.4970-123_4970-121del
NM_001351834.2:c.4237-123_4237-121del	NP_001338763.1:n.4237-123_4237-121del
NM_000051.4:c.4237-123_4237-121del MANE Select	NP_000042.3:n.4237-123_4237-121del