Canonical Allele Identifier: CA2573146722

Gene: ATM

Linked Data

• ClinVar Variation Id: 1416758
• ClinVar RCV Id: RCV001935880
• dbSNP Id: rs1555095841

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287613dup , CM000673.2:g.108287613dup	GRCh38
NC_000011.9:g.108158340dup , CM000673.1:g.108158340dup	GRCh37
NC_000011.8:g.107663550dup	NCBI36
NG_009830.1:g.69782dup , LRG_135:g.69782dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4007dup	ENSP00000388058.2:p.Ile1337HisfsTer2
ENST00000713593.1:c.*3478dup	ENSP00000518889.1:n.*3478dup
ENST00000278616.9:c.4007dup	ENSP00000278616.4:p.Ile1337HisfsTer2
ENST00000533733.6:n.1270dup
ENST00000683174.1:n.4157dup
ENST00000527805.6:c.4007dup	ENSP00000435747.2:p.Ile1337HisfsTer2
ENST00000675595.1:c.3842dup	ENSP00000502563.1:p.Ile1282HisfsTer2
ENST00000675843.1:c.4007dup MANE Select	ENSP00000501606.1:p.Ile1337HisfsTer2
ENST00000278616.8:c.4007dup	ENSP00000278616.4:p.Ile1337HisfsTer2
ENST00000452508.6:c.4007dup	ENSP00000388058.2:p.Ile1337HisfsTer2
ENST00000524792.5:n.222dup
ENST00000527805.5:c.4007dup	ENSP00000435747.1:p.Ile1337HisfsTer2
ENST00000531525.2:c.14dup	ENSP00000434327.2:p.Ile6HisfsTer2
ENST00000533733.5:n.436dup
NM_000051.3:c.4007dup , LRG_135t1:c.4007dup	NP_000042.3:p.Ile1337HisfsTer2
XM_005271561.3:c.4007dup	XP_005271618.2:p.Ile1337HisfsTer2
XM_005271562.3:c.4007dup	XP_005271619.2:p.Ile1337HisfsTer2
XM_006718843.2:c.4007dup	XP_006718906.1:p.Ile1337HisfsTer2
XM_006718845.1:c.-38dup	XP_006718908.1:n.-38dup
XM_011542840.1:c.4007dup	XP_011541142.1:p.Ile1337HisfsTer2
XM_011542841.1:c.4007dup	XP_011541143.1:p.Ile1337HisfsTer2
XM_011542842.1:c.3842dup	XP_011541144.1:p.Ile1282HisfsTer2
XM_011542843.1:c.4007dup	XP_011541145.1:p.Ile1337HisfsTer2
XM_011542844.1:c.2963dup	XP_011541146.1:p.Ile989HisfsTer2
XM_011542845.1:c.2699dup	XP_011541147.1:p.Ile901HisfsTer2
XM_011542846.1:c.4007dup	XP_011541148.1:p.Ile1337HisfsTer2
NM_001351834.1:c.4007dup	NP_001338763.1:p.Ile1337HisfsTer2
XM_005271562.5:c.4007dup	XP_005271619.2:p.Ile1337HisfsTer2
XM_006718843.4:c.4007dup	XP_006718906.1:p.Ile1337HisfsTer2
XM_006718845.2:c.-38dup	XP_006718908.1:n.-38dup
XM_011542840.3:c.4007dup	XP_011541142.1:p.Ile1337HisfsTer2
XM_011542842.3:c.3842dup	XP_011541144.1:p.Ile1282HisfsTer2
XM_011542843.2:c.4007dup	XP_011541145.1:p.Ile1337HisfsTer2
XM_011542844.3:c.2963dup	XP_011541146.1:p.Ile989HisfsTer2
XM_011542845.2:c.2699dup	XP_011541147.1:p.Ile901HisfsTer2
XM_017017789.2:c.4007dup	XP_016873278.1:p.Ile1337HisfsTer2
XM_017017790.2:c.4007dup	XP_016873279.1:p.Ile1337HisfsTer2
XM_017017791.1:c.4007dup	XP_016873280.1:p.Ile1337HisfsTer2
XM_017017792.2:c.4007dup	XP_016873281.1:p.Ile1337HisfsTer2
XR_002957150.1:n.4740dup
NM_001351834.2:c.4007dup	NP_001338763.1:p.Ile1337HisfsTer2
NM_000051.4:c.4007dup MANE Select	NP_000042.3:p.Ile1337HisfsTer2