Canonical Allele Identifier: CA1998803711

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307969_108307972delinsTGAG , CM000673.2:g.108307969_108307972delinsTGAG	GRCh38
NC_000011.9:g.108178696_108178699delinsTGAG , CM000673.1:g.108178696_108178699delinsTGAG	GRCh37
NC_000011.8:g.107683906_107683909delinsTGAG	NCBI36
NG_009830.1:g.90138_90141delinsTGAG , LRG_135:g.90138_90141delinsTGAG
NG_054724.1:g.166861_166864delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5747_5750delinsTGAG	ENSP00000388058.2:p.Met1916=
ENST00000713593.1:c.*5218_*5221delinsTGAG	ENSP00000518889.1:n.*5218_*5221delinsTGAG
ENST00000278616.9:c.5747_5750delinsTGAG	ENSP00000278616.4:p.Met1916=
ENST00000525056.2:n.166_169delinsTGAG
ENST00000682286.1:n.504_507delinsTGAG
ENST00000682302.1:n.165_168delinsTGAG
ENST00000683174.1:n.7231_7234delinsTGAG
ENST00000683524.1:n.971_974delinsTGAG
ENST00000684152.1:n.1461_1464delinsTGAG
ENST00000527805.6:c.*811_*814delinsTGAG	ENSP00000435747.2:n.*811_*814delinsTGAG
ENST00000675595.1:c.*811_*814delinsTGAG	ENSP00000502563.1:n.*811_*814delinsTGAG
ENST00000675843.1:c.5747_5750delinsTGAG MANE Select	ENSP00000501606.1:p.Met1916=
ENST00000278616.8:c.5747_5750delinsTGAG	ENSP00000278616.4:p.Met1916=
ENST00000452508.6:c.5747_5750delinsTGAG	ENSP00000388058.2:p.Met1916=
ENST00000524792.5:n.1962_1965delinsTGAG
ENST00000529588.5:c.187-2191_187-2188delinsTGAG
ENST00000533690.5:n.1151_1154delinsTGAG
NM_000051.3:c.5747_5750delinsTGAG , LRG_135t1:c.5747_5750delinsTGAG	NP_000042.3:p.Met1916=
XM_005271561.3:c.5747_5750delinsTGAG	XP_005271618.2:p.Met1916=
XM_005271562.3:c.5747_5750delinsTGAG	XP_005271619.2:p.Met1916=
XM_006718843.2:c.5747_5750delinsTGAG	XP_006718906.1:p.Met1916=
XM_006718845.1:c.1703_1706delinsTGAG	XP_006718908.1:p.Met568=
XM_011542840.1:c.5747_5750delinsTGAG	XP_011541142.1:p.Met1916=
XM_011542841.1:c.5747_5750delinsTGAG	XP_011541143.1:p.Met1916=
XM_011542842.1:c.5582_5585delinsTGAG	XP_011541144.1:p.Met1861=
XM_011542843.1:c.5747_5750delinsTGAG	XP_011541145.1:p.Met1916=
XM_011542844.1:c.4703_4706delinsTGAG	XP_011541146.1:p.Met1568=
XM_011542845.1:c.4439_4442delinsTGAG	XP_011541147.1:p.Met1480=
XM_011542847.1:c.818_821delinsTGAG	XP_011541149.1:p.Met273=
NM_001351834.1:c.5747_5750delinsTGAG	NP_001338763.1:p.Met1916=
XM_005271562.5:c.5747_5750delinsTGAG	XP_005271619.2:p.Met1916=
XM_006718843.4:c.5747_5750delinsTGAG	XP_006718906.1:p.Met1916=
XM_006718845.2:c.1703_1706delinsTGAG	XP_006718908.1:p.Met568=
XM_011542840.3:c.5747_5750delinsTGAG	XP_011541142.1:p.Met1916=
XM_011542842.3:c.5582_5585delinsTGAG	XP_011541144.1:p.Met1861=
XM_011542843.2:c.5747_5750delinsTGAG	XP_011541145.1:p.Met1916=
XM_011542844.3:c.4703_4706delinsTGAG	XP_011541146.1:p.Met1568=
XM_011542845.2:c.4439_4442delinsTGAG	XP_011541147.1:p.Met1480=
XM_017017789.2:c.5747_5750delinsTGAG	XP_016873278.1:p.Met1916=
XM_017017790.2:c.5747_5750delinsTGAG	XP_016873279.1:p.Met1916=
XM_017017791.1:c.5747_5750delinsTGAG	XP_016873280.1:p.Met1916=
XR_002957150.1:n.6347_6350delinsTGAG
NM_001351834.2:c.5747_5750delinsTGAG	NP_001338763.1:p.Met1916=
NM_000051.4:c.5747_5750delinsTGAG MANE Select	NP_000042.3:p.Met1916=