Canonical Allele Identifier: CA645569722

Gene: ATM

Linked Data

• COSMIC: COSM1235435

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251900_108251901delinsC , CM000673.2:g.108251900_108251901delinsC	GRCh38
NC_000011.9:g.108122627_108122628delinsC , CM000673.1:g.108122627_108122628delinsC	GRCh37
NC_000011.8:g.107627837_107627838delinsC	NCBI36
NG_009830.1:g.34069_34070delinsC , LRG_135:g.34069_34070delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.1671_1672delinsC	ENSP00000388058.2:p.Met557IlefsTer3
ENST00000713593.1:c.*1142_*1143delinsC	ENSP00000518889.1:n.*1142_*1143delinsC
ENST00000278616.9:c.1671_1672delinsC	ENSP00000278616.4:p.Met557IlefsTer3
ENST00000682516.1:n.1805_1806delinsC
ENST00000683174.1:n.1821_1822delinsC
ENST00000683605.1:n.1166_1167delinsC
ENST00000684037.1:c.*606_*607delinsC	ENSP00000508245.1:n.*606_*607delinsC
ENST00000684061.1:n.1805_1806delinsC
ENST00000527805.6:c.1671_1672delinsC	ENSP00000435747.2:p.Met557IlefsTer3
ENST00000675595.1:c.1506_1507delinsC	ENSP00000502563.1:p.Met502IlefsTer3
ENST00000675843.1:c.1671_1672delinsC MANE Select	ENSP00000501606.1:p.Met557IlefsTer3
ENST00000278616.8:c.1671_1672delinsC	ENSP00000278616.4:p.Met557IlefsTer3
ENST00000452508.6:c.1671_1672delinsC	ENSP00000388058.2:p.Met557IlefsTer3
ENST00000527805.5:c.1671_1672delinsC	ENSP00000435747.1:p.Met557IlefsTer3
NM_000051.3:c.1671_1672delinsC , LRG_135t1:c.1671_1672delinsC	NP_000042.3:p.Met557IlefsTer3
XM_005271561.3:c.1671_1672delinsC	XP_005271618.2:p.Met557IlefsTer3
XM_005271562.3:c.1671_1672delinsC	XP_005271619.2:p.Met557IlefsTer3
XM_006718843.2:c.1671_1672delinsC	XP_006718906.1:p.Met557IlefsTer3
XM_011542840.1:c.1671_1672delinsC	XP_011541142.1:p.Met557IlefsTer3
XM_011542841.1:c.1671_1672delinsC	XP_011541143.1:p.Met557IlefsTer3
XM_011542842.1:c.1506_1507delinsC	XP_011541144.1:p.Met502IlefsTer3
XM_011542843.1:c.1671_1672delinsC	XP_011541145.1:p.Met557IlefsTer3
XM_011542844.1:c.627_628delinsC	XP_011541146.1:p.Met209IlefsTer3
XM_011542845.1:c.363_364delinsC	XP_011541147.1:p.Met121IlefsTer3
XM_011542846.1:c.1671_1672delinsC	XP_011541148.1:p.Met557IlefsTer3
NM_001351834.1:c.1671_1672delinsC	NP_001338763.1:p.Met557IlefsTer3
XM_005271562.5:c.1671_1672delinsC	XP_005271619.2:p.Met557IlefsTer3
XM_006718843.4:c.1671_1672delinsC	XP_006718906.1:p.Met557IlefsTer3
XM_011542840.3:c.1671_1672delinsC	XP_011541142.1:p.Met557IlefsTer3
XM_011542842.3:c.1506_1507delinsC	XP_011541144.1:p.Met502IlefsTer3
XM_011542843.2:c.1671_1672delinsC	XP_011541145.1:p.Met557IlefsTer3
XM_011542844.3:c.627_628delinsC	XP_011541146.1:p.Met209IlefsTer3
XM_011542845.2:c.363_364delinsC	XP_011541147.1:p.Met121IlefsTer3
XM_017017789.2:c.1671_1672delinsC	XP_016873278.1:p.Met557IlefsTer3
XM_017017790.2:c.1671_1672delinsC	XP_016873279.1:p.Met557IlefsTer3
XM_017017791.1:c.1671_1672delinsC	XP_016873280.1:p.Met557IlefsTer3
XM_017017792.2:c.1671_1672delinsC	XP_016873281.1:p.Met557IlefsTer3
XR_002957150.1:n.2404_2405delinsC
NM_001351834.2:c.1671_1672delinsC	NP_001338763.1:p.Met557IlefsTer3
NM_000051.4:c.1671_1672delinsC MANE Select	NP_000042.3:p.Met557IlefsTer3