Canonical Allele Identifier: CA1998803442

Gene: ATM

Linked Data

• dbSNP Id: rs1790345249

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307529_108307533del , CM000673.2:g.108307529_108307533del	GRCh38
NC_000011.9:g.108178256_108178260del , CM000673.1:g.108178256_108178260del	GRCh37
NC_000011.8:g.107683466_107683470del	NCBI36
NG_009830.1:g.89698_89702del , LRG_135:g.89698_89702del
NG_054724.1:g.167302_167306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5675-368_5675-364del	ENSP00000388058.2:n.5675-368_5675-364del
ENST00000713593.1:c.*5146-368_*5146-364del	ENSP00000518889.1:n.*5146-368_*5146-364del
ENST00000278616.9:c.5675-368_5675-364del	ENSP00000278616.4:n.5675-368_5675-364del
ENST00000682286.1:n.431+47_431+51del
ENST00000683174.1:n.7159-368_7159-364del
ENST00000683524.1:n.899-368_899-364del
ENST00000684152.1:n.1389-368_1389-364del
ENST00000527805.6:c.*739-368_*739-364del	ENSP00000435747.2:n.*739-368_*739-364del
ENST00000675595.1:c.*739-368_*739-364del	ENSP00000502563.1:n.*739-368_*739-364del
ENST00000675843.1:c.5675-368_5675-364del MANE Select	ENSP00000501606.1:n.5675-368_5675-364del
ENST00000278616.8:c.5675-368_5675-364del	ENSP00000278616.4:n.5675-368_5675-364del
ENST00000452508.6:c.5675-368_5675-364del	ENSP00000388058.2:n.5675-368_5675-364del
ENST00000524792.5:n.1890-368_1890-364del
ENST00000529588.5:c.187-2631_187-2627del
ENST00000533690.5:n.1079-368_1079-364del
NM_000051.3:c.5675-368_5675-364del , LRG_135t1:c.5675-368_5675-364del	NP_000042.3:n.5675-368_5675-364del
XM_005271561.3:c.5675-368_5675-364del	XP_005271618.2:n.5675-368_5675-364del
XM_005271562.3:c.5675-368_5675-364del	XP_005271619.2:n.5675-368_5675-364del
XM_006718843.2:c.5675-368_5675-364del	XP_006718906.1:n.5675-368_5675-364del
XM_006718845.1:c.1631-368_1631-364del	XP_006718908.1:n.1631-368_1631-364del
XM_011542840.1:c.5675-368_5675-364del	XP_011541142.1:n.5675-368_5675-364del
XM_011542841.1:c.5675-368_5675-364del	XP_011541143.1:n.5675-368_5675-364del
XM_011542842.1:c.5510-368_5510-364del	XP_011541144.1:n.5510-368_5510-364del
XM_011542843.1:c.5675-368_5675-364del	XP_011541145.1:n.5675-368_5675-364del
XM_011542844.1:c.4631-368_4631-364del	XP_011541146.1:n.4631-368_4631-364del
XM_011542845.1:c.4367-368_4367-364del	XP_011541147.1:n.4367-368_4367-364del
XM_011542847.1:c.746-368_746-364del	XP_011541149.1:n.746-368_746-364del
NM_001351834.1:c.5675-368_5675-364del	NP_001338763.1:n.5675-368_5675-364del
XM_005271562.5:c.5675-368_5675-364del	XP_005271619.2:n.5675-368_5675-364del
XM_006718843.4:c.5675-368_5675-364del	XP_006718906.1:n.5675-368_5675-364del
XM_006718845.2:c.1631-368_1631-364del	XP_006718908.1:n.1631-368_1631-364del
XM_011542840.3:c.5675-368_5675-364del	XP_011541142.1:n.5675-368_5675-364del
XM_011542842.3:c.5510-368_5510-364del	XP_011541144.1:n.5510-368_5510-364del
XM_011542843.2:c.5675-368_5675-364del	XP_011541145.1:n.5675-368_5675-364del
XM_011542844.3:c.4631-368_4631-364del	XP_011541146.1:n.4631-368_4631-364del
XM_011542845.2:c.4367-368_4367-364del	XP_011541147.1:n.4367-368_4367-364del
XM_017017789.2:c.5675-368_5675-364del	XP_016873278.1:n.5675-368_5675-364del
XM_017017790.2:c.5675-368_5675-364del	XP_016873279.1:n.5675-368_5675-364del
XM_017017791.1:c.5675-368_5675-364del	XP_016873280.1:n.5675-368_5675-364del
XR_002957150.1:n.6275-368_6275-364del
NM_001351834.2:c.5675-368_5675-364del	NP_001338763.1:n.5675-368_5675-364del
NM_000051.4:c.5675-368_5675-364del MANE Select	NP_000042.3:n.5675-368_5675-364del