Canonical Allele Identifier: CA2615859363

Gene: ATM

Linked Data

• gnomAD v4: 11-108307832-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307836_108307838del , CM000673.2:g.108307836_108307838del	GRCh38
NC_000011.9:g.108178563_108178565del , CM000673.1:g.108178563_108178565del	GRCh37
NC_000011.8:g.107683773_107683775del	NCBI36
NG_009830.1:g.90005_90007del , LRG_135:g.90005_90007del
NG_054724.1:g.166998_167000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5675-61_5675-59del	ENSP00000388058.2:n.5675-61_5675-59del
ENST00000713593.1:c.*5146-61_*5146-59del	ENSP00000518889.1:n.*5146-61_*5146-59del
ENST00000278616.9:c.5675-61_5675-59del	ENSP00000278616.4:n.5675-61_5675-59del
ENST00000525056.2:n.33_35del
ENST00000682286.1:n.432-61_432-59del
ENST00000682302.1:n.32_34del
ENST00000683174.1:n.7159-61_7159-59del
ENST00000683524.1:n.899-61_899-59del
ENST00000684152.1:n.1389-61_1389-59del
ENST00000527805.6:c.*739-61_*739-59del	ENSP00000435747.2:n.*739-61_*739-59del
ENST00000675595.1:c.*739-61_*739-59del	ENSP00000502563.1:n.*739-61_*739-59del
ENST00000675843.1:c.5675-61_5675-59del MANE Select	ENSP00000501606.1:n.5675-61_5675-59del
ENST00000278616.8:c.5675-61_5675-59del	ENSP00000278616.4:n.5675-61_5675-59del
ENST00000452508.6:c.5675-61_5675-59del	ENSP00000388058.2:n.5675-61_5675-59del
ENST00000524792.5:n.1890-61_1890-59del
ENST00000529588.5:c.187-2324_187-2322del
ENST00000533690.5:n.1079-61_1079-59del
NM_000051.3:c.5675-61_5675-59del , LRG_135t1:c.5675-61_5675-59del	NP_000042.3:n.5675-61_5675-59del
XM_005271561.3:c.5675-61_5675-59del	XP_005271618.2:n.5675-61_5675-59del
XM_005271562.3:c.5675-61_5675-59del	XP_005271619.2:n.5675-61_5675-59del
XM_006718843.2:c.5675-61_5675-59del	XP_006718906.1:n.5675-61_5675-59del
XM_006718845.1:c.1631-61_1631-59del	XP_006718908.1:n.1631-61_1631-59del
XM_011542840.1:c.5675-61_5675-59del	XP_011541142.1:n.5675-61_5675-59del
XM_011542841.1:c.5675-61_5675-59del	XP_011541143.1:n.5675-61_5675-59del
XM_011542842.1:c.5510-61_5510-59del	XP_011541144.1:n.5510-61_5510-59del
XM_011542843.1:c.5675-61_5675-59del	XP_011541145.1:n.5675-61_5675-59del
XM_011542844.1:c.4631-61_4631-59del	XP_011541146.1:n.4631-61_4631-59del
XM_011542845.1:c.4367-61_4367-59del	XP_011541147.1:n.4367-61_4367-59del
XM_011542847.1:c.746-61_746-59del	XP_011541149.1:n.746-61_746-59del
NM_001351834.1:c.5675-61_5675-59del	NP_001338763.1:n.5675-61_5675-59del
XM_005271562.5:c.5675-61_5675-59del	XP_005271619.2:n.5675-61_5675-59del
XM_006718843.4:c.5675-61_5675-59del	XP_006718906.1:n.5675-61_5675-59del
XM_006718845.2:c.1631-61_1631-59del	XP_006718908.1:n.1631-61_1631-59del
XM_011542840.3:c.5675-61_5675-59del	XP_011541142.1:n.5675-61_5675-59del
XM_011542842.3:c.5510-61_5510-59del	XP_011541144.1:n.5510-61_5510-59del
XM_011542843.2:c.5675-61_5675-59del	XP_011541145.1:n.5675-61_5675-59del
XM_011542844.3:c.4631-61_4631-59del	XP_011541146.1:n.4631-61_4631-59del
XM_011542845.2:c.4367-61_4367-59del	XP_011541147.1:n.4367-61_4367-59del
XM_017017789.2:c.5675-61_5675-59del	XP_016873278.1:n.5675-61_5675-59del
XM_017017790.2:c.5675-61_5675-59del	XP_016873279.1:n.5675-61_5675-59del
XM_017017791.1:c.5675-61_5675-59del	XP_016873280.1:n.5675-61_5675-59del
XR_002957150.1:n.6275-61_6275-59del
NM_001351834.2:c.5675-61_5675-59del	NP_001338763.1:n.5675-61_5675-59del
NM_000051.4:c.5675-61_5675-59del MANE Select	NP_000042.3:n.5675-61_5675-59del