Canonical Allele Identifier: CA671416112

Gene: ATM

Linked Data

• dbSNP Id: rs1291370256
• gnomAD v3: 11-108307816-GAGAC-G
• gnomAD v4: 11-108307816-GAGAC-G
• MyVariant Identifiers: chr11:g.108178544_108178547del (hg19) ; chr11:g.108307817_108307820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307822_108307825del , CM000673.2:g.108307822_108307825del	GRCh38
NC_000011.9:g.108178549_108178552del , CM000673.1:g.108178549_108178552del	GRCh37
NC_000011.8:g.107683759_107683762del	NCBI36
NG_009830.1:g.89991_89994del , LRG_135:g.89991_89994del
NG_054724.1:g.167013_167016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5675-75_5675-72del	ENSP00000388058.2:n.5675-75_5675-72del
ENST00000713593.1:c.*5146-75_*5146-72del	ENSP00000518889.1:n.*5146-75_*5146-72del
ENST00000278616.9:c.5675-75_5675-72del	ENSP00000278616.4:n.5675-75_5675-72del
ENST00000525056.2:n.19_22del
ENST00000682286.1:n.432-75_432-72del
ENST00000682302.1:n.18_21del
ENST00000683174.1:n.7159-75_7159-72del
ENST00000683524.1:n.899-75_899-72del
ENST00000684152.1:n.1389-75_1389-72del
ENST00000527805.6:c.*739-75_*739-72del	ENSP00000435747.2:n.*739-75_*739-72del
ENST00000675595.1:c.*739-75_*739-72del	ENSP00000502563.1:n.*739-75_*739-72del
ENST00000675843.1:c.5675-75_5675-72del MANE Select	ENSP00000501606.1:n.5675-75_5675-72del
ENST00000278616.8:c.5675-75_5675-72del	ENSP00000278616.4:n.5675-75_5675-72del
ENST00000452508.6:c.5675-75_5675-72del	ENSP00000388058.2:n.5675-75_5675-72del
ENST00000524792.5:n.1890-75_1890-72del
ENST00000529588.5:c.187-2338_187-2335del
ENST00000533690.5:n.1079-75_1079-72del
NM_000051.3:c.5675-75_5675-72del , LRG_135t1:c.5675-75_5675-72del	NP_000042.3:n.5675-75_5675-72del
XM_005271561.3:c.5675-75_5675-72del	XP_005271618.2:n.5675-75_5675-72del
XM_005271562.3:c.5675-75_5675-72del	XP_005271619.2:n.5675-75_5675-72del
XM_006718843.2:c.5675-75_5675-72del	XP_006718906.1:n.5675-75_5675-72del
XM_006718845.1:c.1631-75_1631-72del	XP_006718908.1:n.1631-75_1631-72del
XM_011542840.1:c.5675-75_5675-72del	XP_011541142.1:n.5675-75_5675-72del
XM_011542841.1:c.5675-75_5675-72del	XP_011541143.1:n.5675-75_5675-72del
XM_011542842.1:c.5510-75_5510-72del	XP_011541144.1:n.5510-75_5510-72del
XM_011542843.1:c.5675-75_5675-72del	XP_011541145.1:n.5675-75_5675-72del
XM_011542844.1:c.4631-75_4631-72del	XP_011541146.1:n.4631-75_4631-72del
XM_011542845.1:c.4367-75_4367-72del	XP_011541147.1:n.4367-75_4367-72del
XM_011542847.1:c.746-75_746-72del	XP_011541149.1:n.746-75_746-72del
NM_001351834.1:c.5675-75_5675-72del	NP_001338763.1:n.5675-75_5675-72del
XM_005271562.5:c.5675-75_5675-72del	XP_005271619.2:n.5675-75_5675-72del
XM_006718843.4:c.5675-75_5675-72del	XP_006718906.1:n.5675-75_5675-72del
XM_006718845.2:c.1631-75_1631-72del	XP_006718908.1:n.1631-75_1631-72del
XM_011542840.3:c.5675-75_5675-72del	XP_011541142.1:n.5675-75_5675-72del
XM_011542842.3:c.5510-75_5510-72del	XP_011541144.1:n.5510-75_5510-72del
XM_011542843.2:c.5675-75_5675-72del	XP_011541145.1:n.5675-75_5675-72del
XM_011542844.3:c.4631-75_4631-72del	XP_011541146.1:n.4631-75_4631-72del
XM_011542845.2:c.4367-75_4367-72del	XP_011541147.1:n.4367-75_4367-72del
XM_017017789.2:c.5675-75_5675-72del	XP_016873278.1:n.5675-75_5675-72del
XM_017017790.2:c.5675-75_5675-72del	XP_016873279.1:n.5675-75_5675-72del
XM_017017791.1:c.5675-75_5675-72del	XP_016873280.1:n.5675-75_5675-72del
XR_002957150.1:n.6275-75_6275-72del
NM_001351834.2:c.5675-75_5675-72del	NP_001338763.1:n.5675-75_5675-72del
NM_000051.4:c.5675-75_5675-72del MANE Select	NP_000042.3:n.5675-75_5675-72del