Canonical Allele Identifier: CA942026012

Gene: ATM

Linked Data

• dbSNP Id: rs1796710594
• gnomAD v3: 11-108307571-CAGTG-C
• gnomAD v4: 11-108307571-CAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307575_108307578del , CM000673.2:g.108307575_108307578del	GRCh38
NC_000011.9:g.108178302_108178305del , CM000673.1:g.108178302_108178305del	GRCh37
NC_000011.8:g.107683512_107683515del	NCBI36
NG_009830.1:g.89744_89747del , LRG_135:g.89744_89747del
NG_054724.1:g.167258_167261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5675-322_5675-319del	ENSP00000388058.2:n.5675-322_5675-319del
ENST00000713593.1:c.*5146-322_*5146-319del	ENSP00000518889.1:n.*5146-322_*5146-319del
ENST00000278616.9:c.5675-322_5675-319del	ENSP00000278616.4:n.5675-322_5675-319del
ENST00000682286.1:n.431+93_431+96del
ENST00000683174.1:n.7159-322_7159-319del
ENST00000683524.1:n.899-322_899-319del
ENST00000684152.1:n.1389-322_1389-319del
ENST00000527805.6:c.*739-322_*739-319del	ENSP00000435747.2:n.*739-322_*739-319del
ENST00000675595.1:c.*739-322_*739-319del	ENSP00000502563.1:n.*739-322_*739-319del
ENST00000675843.1:c.5675-322_5675-319del MANE Select	ENSP00000501606.1:n.5675-322_5675-319del
ENST00000278616.8:c.5675-322_5675-319del	ENSP00000278616.4:n.5675-322_5675-319del
ENST00000452508.6:c.5675-322_5675-319del	ENSP00000388058.2:n.5675-322_5675-319del
ENST00000524792.5:n.1890-322_1890-319del
ENST00000529588.5:c.187-2585_187-2582del
ENST00000533690.5:n.1079-322_1079-319del
NM_000051.3:c.5675-322_5675-319del , LRG_135t1:c.5675-322_5675-319del	NP_000042.3:n.5675-322_5675-319del
XM_005271561.3:c.5675-322_5675-319del	XP_005271618.2:n.5675-322_5675-319del
XM_005271562.3:c.5675-322_5675-319del	XP_005271619.2:n.5675-322_5675-319del
XM_006718843.2:c.5675-322_5675-319del	XP_006718906.1:n.5675-322_5675-319del
XM_006718845.1:c.1631-322_1631-319del	XP_006718908.1:n.1631-322_1631-319del
XM_011542840.1:c.5675-322_5675-319del	XP_011541142.1:n.5675-322_5675-319del
XM_011542841.1:c.5675-322_5675-319del	XP_011541143.1:n.5675-322_5675-319del
XM_011542842.1:c.5510-322_5510-319del	XP_011541144.1:n.5510-322_5510-319del
XM_011542843.1:c.5675-322_5675-319del	XP_011541145.1:n.5675-322_5675-319del
XM_011542844.1:c.4631-322_4631-319del	XP_011541146.1:n.4631-322_4631-319del
XM_011542845.1:c.4367-322_4367-319del	XP_011541147.1:n.4367-322_4367-319del
XM_011542847.1:c.746-322_746-319del	XP_011541149.1:n.746-322_746-319del
NM_001351834.1:c.5675-322_5675-319del	NP_001338763.1:n.5675-322_5675-319del
XM_005271562.5:c.5675-322_5675-319del	XP_005271619.2:n.5675-322_5675-319del
XM_006718843.4:c.5675-322_5675-319del	XP_006718906.1:n.5675-322_5675-319del
XM_006718845.2:c.1631-322_1631-319del	XP_006718908.1:n.1631-322_1631-319del
XM_011542840.3:c.5675-322_5675-319del	XP_011541142.1:n.5675-322_5675-319del
XM_011542842.3:c.5510-322_5510-319del	XP_011541144.1:n.5510-322_5510-319del
XM_011542843.2:c.5675-322_5675-319del	XP_011541145.1:n.5675-322_5675-319del
XM_011542844.3:c.4631-322_4631-319del	XP_011541146.1:n.4631-322_4631-319del
XM_011542845.2:c.4367-322_4367-319del	XP_011541147.1:n.4367-322_4367-319del
XM_017017789.2:c.5675-322_5675-319del	XP_016873278.1:n.5675-322_5675-319del
XM_017017790.2:c.5675-322_5675-319del	XP_016873279.1:n.5675-322_5675-319del
XM_017017791.1:c.5675-322_5675-319del	XP_016873280.1:n.5675-322_5675-319del
XR_002957150.1:n.6275-322_6275-319del
NM_001351834.2:c.5675-322_5675-319del	NP_001338763.1:n.5675-322_5675-319del
NM_000051.4:c.5675-322_5675-319del MANE Select	NP_000042.3:n.5675-322_5675-319del