Canonical Allele Identifier: CA3047143179

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287618_108287624dup , CM000673.2:g.108287618_108287624dup	GRCh38
NC_000011.9:g.108158345_108158351dup , CM000673.1:g.108158345_108158351dup	GRCh37
NC_000011.8:g.107663555_107663561dup	NCBI36
NG_009830.1:g.69787_69793dup , LRG_135:g.69787_69793dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.4012_4018dup MANE Select	NP_000042.3:p.Leu1340Ter
ENST00000675843.1:c.4012_4018dup MANE Select	ENSP00000501606.1:p.Leu1340Ter
NM_000051.3:c.4012_4018dup , LRG_135t1:c.4012_4018dup	NP_000042.3:p.Leu1340Ter
NM_001351834.1:c.4012_4018dup	NP_001338763.1:p.Leu1340Ter
NM_001351834.2:c.4012_4018dup	NP_001338763.1:p.Leu1340Ter
ENST00000278616.8:c.4012_4018dup	ENSP00000278616.4:p.Leu1340Ter
ENST00000278616.9:c.4012_4018dup	ENSP00000278616.4:p.Leu1340Ter
ENST00000452508.6:c.4012_4018dup	ENSP00000388058.2:p.Leu1340Ter
ENST00000452508.7:c.4012_4018dup	ENSP00000388058.2:p.Leu1340Ter
ENST00000524792.5:n.227_233dup
ENST00000527805.5:c.4012_4018dup	ENSP00000435747.1:p.Leu1340Ter
ENST00000527805.6:c.4012_4018dup	ENSP00000435747.2:p.Leu1340Ter
ENST00000531525.2:c.19_25dup	ENSP00000434327.2:p.Leu9Ter
ENST00000533733.5:n.441_447dup
ENST00000533733.6:n.1275_1281dup
ENST00000675595.1:c.3847_3853dup	ENSP00000502563.1:p.Leu1285Ter
ENST00000683174.1:n.4162_4168dup
ENST00000713593.1:c.*3483_*3489dup	ENSP00000518889.1:n.*3483_*3489dup
XM_005271561.3:c.4012_4018dup	XP_005271618.2:p.Leu1340Ter
XM_005271562.3:c.4012_4018dup	XP_005271619.2:p.Leu1340Ter
XM_005271562.5:c.4012_4018dup	XP_005271619.2:p.Leu1340Ter
XM_006718843.2:c.4012_4018dup	XP_006718906.1:p.Leu1340Ter
XM_006718843.4:c.4012_4018dup	XP_006718906.1:p.Leu1340Ter
XM_006718845.1:c.-33_-27dup	XP_006718908.1:n.-33_-27dup
XM_006718845.2:c.-33_-27dup	XP_006718908.1:n.-33_-27dup
XM_011542840.1:c.4012_4018dup	XP_011541142.1:p.Leu1340Ter
XM_011542840.3:c.4012_4018dup	XP_011541142.1:p.Leu1340Ter
XM_011542841.1:c.4012_4018dup	XP_011541143.1:p.Leu1340Ter
XM_011542842.1:c.3847_3853dup	XP_011541144.1:p.Leu1285Ter
XM_011542842.3:c.3847_3853dup	XP_011541144.1:p.Leu1285Ter
XM_011542843.1:c.4012_4018dup	XP_011541145.1:p.Leu1340Ter
XM_011542843.2:c.4012_4018dup	XP_011541145.1:p.Leu1340Ter
XM_011542844.1:c.2968_2974dup	XP_011541146.1:p.Leu992Ter
XM_011542844.3:c.2968_2974dup	XP_011541146.1:p.Leu992Ter
XM_011542845.1:c.2704_2710dup	XP_011541147.1:p.Leu904Ter
XM_011542845.2:c.2704_2710dup	XP_011541147.1:p.Leu904Ter
XM_011542846.1:c.4012_4018dup	XP_011541148.1:p.Leu1340Ter
XM_017017789.2:c.4012_4018dup	XP_016873278.1:p.Leu1340Ter
XM_017017790.2:c.4012_4018dup	XP_016873279.1:p.Leu1340Ter
XM_017017791.1:c.4012_4018dup	XP_016873280.1:p.Leu1340Ter
XM_017017792.2:c.4012_4018dup	XP_016873281.1:p.Leu1340Ter
XR_002957150.1:n.4745_4751dup