Canonical Allele Identifier: CA915947630

Gene: ATM

Linked Data

• ClinVar Variation Id: 825737
• ClinVar RCV Id: RCV001024115
• dbSNP Id: rs1591712726

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302976_108303007dup , CM000673.2:g.108302976_108303007dup	GRCh38
NC_000011.9:g.108173703_108173734dup , CM000673.1:g.108173703_108173734dup	GRCh37
NC_000011.8:g.107678913_107678944dup	NCBI36
NG_009830.1:g.85145_85176dup , LRG_135:g.85145_85176dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5443_5474dup	ENSP00000388058.2:p.Leu1826ThrfsTer13
ENST00000713593.1:c.*4914_*4945dup	ENSP00000518889.1:n.*4914_*4945dup
ENST00000278616.9:c.5443_5474dup	ENSP00000278616.4:p.Leu1826ThrfsTer13
ENST00000683174.1:n.6927_6958dup
ENST00000683524.1:n.667_698dup
ENST00000684152.1:n.1157_1188dup
ENST00000527805.6:c.*507_*538dup	ENSP00000435747.2:n.*507_*538dup
ENST00000675595.1:c.*507_*538dup	ENSP00000502563.1:n.*507_*538dup
ENST00000675843.1:c.5443_5474dup MANE Select	ENSP00000501606.1:p.Leu1826ThrfsTer13
ENST00000278616.8:c.5443_5474dup	ENSP00000278616.4:p.Leu1826ThrfsTer13
ENST00000452508.6:c.5443_5474dup	ENSP00000388058.2:p.Leu1826ThrfsTer13
ENST00000524792.5:n.1658_1689dup
ENST00000533690.5:n.847_878dup
ENST00000534625.1:n.672_703dup
NM_000051.3:c.5443_5474dup , LRG_135t1:c.5443_5474dup	NP_000042.3:p.Leu1826ThrfsTer13
XM_005271561.3:c.5443_5474dup	XP_005271618.2:p.Leu1826ThrfsTer13
XM_005271562.3:c.5443_5474dup	XP_005271619.2:p.Leu1826ThrfsTer13
XM_006718843.2:c.5443_5474dup	XP_006718906.1:p.Leu1826ThrfsTer13
XM_006718845.1:c.1399_1430dup	XP_006718908.1:p.Leu478ThrfsTer13
XM_011542840.1:c.5443_5474dup	XP_011541142.1:p.Leu1826ThrfsTer13
XM_011542841.1:c.5443_5474dup	XP_011541143.1:p.Leu1826ThrfsTer13
XM_011542842.1:c.5278_5309dup	XP_011541144.1:p.Leu1771ThrfsTer13
XM_011542843.1:c.5443_5474dup	XP_011541145.1:p.Leu1826ThrfsTer13
XM_011542844.1:c.4399_4430dup	XP_011541146.1:p.Leu1478ThrfsTer13
XM_011542845.1:c.4135_4166dup	XP_011541147.1:p.Leu1390ThrfsTer13
XM_011542847.1:c.514_545dup	XP_011541149.1:p.Leu183ThrfsTer13
NM_001351834.1:c.5443_5474dup	NP_001338763.1:p.Leu1826ThrfsTer13
XM_005271562.5:c.5443_5474dup	XP_005271619.2:p.Leu1826ThrfsTer13
XM_006718843.4:c.5443_5474dup	XP_006718906.1:p.Leu1826ThrfsTer13
XM_006718845.2:c.1399_1430dup	XP_006718908.1:p.Leu478ThrfsTer13
XM_011542840.3:c.5443_5474dup	XP_011541142.1:p.Leu1826ThrfsTer13
XM_011542842.3:c.5278_5309dup	XP_011541144.1:p.Leu1771ThrfsTer13
XM_011542843.2:c.5443_5474dup	XP_011541145.1:p.Leu1826ThrfsTer13
XM_011542844.3:c.4399_4430dup	XP_011541146.1:p.Leu1478ThrfsTer13
XM_011542845.2:c.4135_4166dup	XP_011541147.1:p.Leu1390ThrfsTer13
XM_017017789.2:c.5443_5474dup	XP_016873278.1:p.Leu1826ThrfsTer13
XM_017017790.2:c.5443_5474dup	XP_016873279.1:p.Leu1826ThrfsTer13
XM_017017791.1:c.5443_5474dup	XP_016873280.1:p.Leu1826ThrfsTer13
XR_002957150.1:n.6043_6074dup
NM_001351834.2:c.5443_5474dup	NP_001338763.1:p.Leu1826ThrfsTer13
NM_000051.4:c.5443_5474dup MANE Select	NP_000042.3:p.Leu1826ThrfsTer13