Canonical Allele Identifier: CA915947638

Gene: ATM

Linked Data

• ClinVar Variation Id: 802765
• ClinVar RCV Id: RCV000988699
• dbSNP Id: rs1591732424

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307979_108307983del , CM000673.2:g.108307979_108307983del	GRCh38
NC_000011.9:g.108178706_108178710del , CM000673.1:g.108178706_108178710del	GRCh37
NC_000011.8:g.107683916_107683920del	NCBI36
NG_009830.1:g.90148_90152del , LRG_135:g.90148_90152del
NG_054724.1:g.166851_166855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5757_5761del	ENSP00000388058.2:p.Lys1920ThrfsTer8
ENST00000713593.1:c.*5228_*5232del	ENSP00000518889.1:n.*5228_*5232del
ENST00000278616.9:c.5757_5761del	ENSP00000278616.4:p.Lys1920ThrfsTer8
ENST00000525056.2:n.176_180del
ENST00000682286.1:n.514_518del
ENST00000682302.1:n.175_179del
ENST00000683174.1:n.7241_7245del
ENST00000683524.1:n.981_985del
ENST00000684152.1:n.1471_1475del
ENST00000527805.6:c.*821_*825del	ENSP00000435747.2:n.*821_*825del
ENST00000675595.1:c.*821_*825del	ENSP00000502563.1:n.*821_*825del
ENST00000675843.1:c.5757_5761del MANE Select	ENSP00000501606.1:p.Lys1920ThrfsTer8
ENST00000278616.8:c.5757_5761del	ENSP00000278616.4:p.Lys1920ThrfsTer8
ENST00000452508.6:c.5757_5761del	ENSP00000388058.2:p.Lys1920ThrfsTer8
ENST00000524792.5:n.1972_1976del
ENST00000529588.5:c.187-2181_187-2177del
ENST00000533690.5:n.1161_1165del
NM_000051.3:c.5757_5761del , LRG_135t1:c.5757_5761del	NP_000042.3:p.Lys1920ThrfsTer8
XM_005271561.3:c.5757_5761del	XP_005271618.2:p.Lys1920ThrfsTer8
XM_005271562.3:c.5757_5761del	XP_005271619.2:p.Lys1920ThrfsTer8
XM_006718843.2:c.5757_5761del	XP_006718906.1:p.Lys1920ThrfsTer8
XM_006718845.1:c.1713_1717del	XP_006718908.1:p.Lys572ThrfsTer8
XM_011542840.1:c.5757_5761del	XP_011541142.1:p.Lys1920ThrfsTer8
XM_011542841.1:c.5757_5761del	XP_011541143.1:p.Lys1920ThrfsTer8
XM_011542842.1:c.5592_5596del	XP_011541144.1:p.Lys1865ThrfsTer8
XM_011542843.1:c.5757_5761del	XP_011541145.1:p.Lys1920ThrfsTer8
XM_011542844.1:c.4713_4717del	XP_011541146.1:p.Lys1572ThrfsTer8
XM_011542845.1:c.4449_4453del	XP_011541147.1:p.Lys1484ThrfsTer8
XM_011542847.1:c.828_832del	XP_011541149.1:p.Lys277ThrfsTer8
NM_001351834.1:c.5757_5761del	NP_001338763.1:p.Lys1920ThrfsTer8
XM_005271562.5:c.5757_5761del	XP_005271619.2:p.Lys1920ThrfsTer8
XM_006718843.4:c.5757_5761del	XP_006718906.1:p.Lys1920ThrfsTer8
XM_006718845.2:c.1713_1717del	XP_006718908.1:p.Lys572ThrfsTer8
XM_011542840.3:c.5757_5761del	XP_011541142.1:p.Lys1920ThrfsTer8
XM_011542842.3:c.5592_5596del	XP_011541144.1:p.Lys1865ThrfsTer8
XM_011542843.2:c.5757_5761del	XP_011541145.1:p.Lys1920ThrfsTer8
XM_011542844.3:c.4713_4717del	XP_011541146.1:p.Lys1572ThrfsTer8
XM_011542845.2:c.4449_4453del	XP_011541147.1:p.Lys1484ThrfsTer8
XM_017017789.2:c.5757_5761del	XP_016873278.1:p.Lys1920ThrfsTer8
XM_017017790.2:c.5757_5761del	XP_016873279.1:p.Lys1920ThrfsTer8
XM_017017791.1:c.5757_5761del	XP_016873280.1:p.Lys1920ThrfsTer8
XR_002957150.1:n.6357_6361del
NM_001351834.2:c.5757_5761del	NP_001338763.1:p.Lys1920ThrfsTer8
NM_000051.4:c.5757_5761del MANE Select	NP_000042.3:p.Lys1920ThrfsTer8