Canonical Allele Identifier: CA2615859572

Gene: ATM

Linked Data

• ClinVar Variation Id: 2700470
• ClinVar RCV Id: RCV003501079
• gnomAD v4: 11-108307927-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307928dup , CM000673.2:g.108307928dup	GRCh38
NC_000011.9:g.108178655dup , CM000673.1:g.108178655dup	GRCh37
NC_000011.8:g.107683865dup	NCBI36
NG_009830.1:g.90097dup , LRG_135:g.90097dup
NG_054724.1:g.166905dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5706dup	ENSP00000388058.2:p.Lys1903Ter
ENST00000713593.1:c.*5177dup	ENSP00000518889.1:n.*5177dup
ENST00000278616.9:c.5706dup	ENSP00000278616.4:p.Lys1903Ter
ENST00000525056.2:n.125dup
ENST00000682286.1:n.463dup
ENST00000682302.1:n.124dup
ENST00000683174.1:n.7190dup
ENST00000683524.1:n.930dup
ENST00000684152.1:n.1420dup
ENST00000527805.6:c.*770dup	ENSP00000435747.2:n.*770dup
ENST00000675595.1:c.*770dup	ENSP00000502563.1:n.*770dup
ENST00000675843.1:c.5706dup MANE Select	ENSP00000501606.1:p.Lys1903Ter
ENST00000278616.8:c.5706dup	ENSP00000278616.4:p.Lys1903Ter
ENST00000452508.6:c.5706dup	ENSP00000388058.2:p.Lys1903Ter
ENST00000524792.5:n.1921dup
ENST00000529588.5:c.187-2232dup
ENST00000533690.5:n.1110dup
NM_000051.3:c.5706dup , LRG_135t1:c.5706dup	NP_000042.3:p.Lys1903Ter
XM_005271561.3:c.5706dup	XP_005271618.2:p.Lys1903Ter
XM_005271562.3:c.5706dup	XP_005271619.2:p.Lys1903Ter
XM_006718843.2:c.5706dup	XP_006718906.1:p.Lys1903Ter
XM_006718845.1:c.1662dup	XP_006718908.1:p.Lys555Ter
XM_011542840.1:c.5706dup	XP_011541142.1:p.Lys1903Ter
XM_011542841.1:c.5706dup	XP_011541143.1:p.Lys1903Ter
XM_011542842.1:c.5541dup	XP_011541144.1:p.Lys1848Ter
XM_011542843.1:c.5706dup	XP_011541145.1:p.Lys1903Ter
XM_011542844.1:c.4662dup	XP_011541146.1:p.Lys1555Ter
XM_011542845.1:c.4398dup	XP_011541147.1:p.Lys1467Ter
XM_011542847.1:c.777dup	XP_011541149.1:p.Lys260Ter
NM_001351834.1:c.5706dup	NP_001338763.1:p.Lys1903Ter
XM_005271562.5:c.5706dup	XP_005271619.2:p.Lys1903Ter
XM_006718843.4:c.5706dup	XP_006718906.1:p.Lys1903Ter
XM_006718845.2:c.1662dup	XP_006718908.1:p.Lys555Ter
XM_011542840.3:c.5706dup	XP_011541142.1:p.Lys1903Ter
XM_011542842.3:c.5541dup	XP_011541144.1:p.Lys1848Ter
XM_011542843.2:c.5706dup	XP_011541145.1:p.Lys1903Ter
XM_011542844.3:c.4662dup	XP_011541146.1:p.Lys1555Ter
XM_011542845.2:c.4398dup	XP_011541147.1:p.Lys1467Ter
XM_017017789.2:c.5706dup	XP_016873278.1:p.Lys1903Ter
XM_017017790.2:c.5706dup	XP_016873279.1:p.Lys1903Ter
XM_017017791.1:c.5706dup	XP_016873280.1:p.Lys1903Ter
XR_002957150.1:n.6306dup
NM_001351834.2:c.5706dup	NP_001338763.1:p.Lys1903Ter
NM_000051.4:c.5706dup MANE Select	NP_000042.3:p.Lys1903Ter