Canonical Allele Identifier: CA1998798628

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108301788_108301797delinsAGGTCTCTTA , CM000673.2:g.108301788_108301797delinsAGGTCTCTTA	GRCh38
NC_000011.9:g.108172515_108172524delinsAGGTCTCTTA , CM000673.1:g.108172515_108172524delinsAGGTCTCTTA	GRCh37
NC_000011.8:g.107677725_107677734delinsAGGTCTCTTA	NCBI36
NG_009830.1:g.83957_83966delinsAGGTCTCTTA , LRG_135:g.83957_83966delinsAGGTCTCTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5318_5319+8delinsAGGTCTCTTA
ENST00000713593.1:c.*4789_*4790+8delinsAGGTCTCTTA
ENST00000278616.9:c.5318_5319+8delinsAGGTCTCTTA
ENST00000683174.1:n.6802_6803+8delinsAGGTCTCTTA
ENST00000683524.1:n.542_543+8delinsAGGTCTCTTA
ENST00000684152.1:n.1032_1033+8delinsAGGTCTCTTA
ENST00000527805.6:c.*382_*383+8delinsAGGTCTCTTA
ENST00000675595.1:c.*382_*383+8delinsAGGTCTCTTA
ENST00000675843.1:c.5318_5319+8delinsAGGTCTCTTA
ENST00000278616.8:c.5318_5319+8delinsAGGTCTCTTA
ENST00000452508.6:c.5318_5319+8delinsAGGTCTCTTA
ENST00000524792.5:n.1533_1534+8delinsAGGTCTCTTA
ENST00000533690.5:n.722_723+8delinsAGGTCTCTTA
ENST00000534625.1:n.547_548+8delinsAGGTCTCTTA
NM_000051.3:c.5318_5319+8delinsAGGTCTCTTA , LRG_135t1:c.5318_5319+8delinsAGGTCTCTTA
XM_005271561.3:c.5318_5319+8delinsAGGTCTCTTA
XM_005271562.3:c.5318_5319+8delinsAGGTCTCTTA
XM_006718843.2:c.5318_5319+8delinsAGGTCTCTTA
XM_006718845.1:c.1274_1275+8delinsAGGTCTCTTA
XM_011542840.1:c.5318_5319+8delinsAGGTCTCTTA
XM_011542841.1:c.5318_5319+8delinsAGGTCTCTTA
XM_011542842.1:c.5153_5154+8delinsAGGTCTCTTA
XM_011542843.1:c.5318_5319+8delinsAGGTCTCTTA
XM_011542844.1:c.4274_4275+8delinsAGGTCTCTTA
XM_011542845.1:c.4010_4011+8delinsAGGTCTCTTA
XM_011542846.1:c.5318_5318+9delinsAGGTCTCTTA
XM_011542847.1:c.389_390+8delinsAGGTCTCTTA
NM_001351834.1:c.5318_5319+8delinsAGGTCTCTTA
XM_005271562.5:c.5318_5319+8delinsAGGTCTCTTA
XM_006718843.4:c.5318_5319+8delinsAGGTCTCTTA
XM_006718845.2:c.1274_1275+8delinsAGGTCTCTTA
XM_011542840.3:c.5318_5319+8delinsAGGTCTCTTA
XM_011542842.3:c.5153_5154+8delinsAGGTCTCTTA
XM_011542843.2:c.5318_5319+8delinsAGGTCTCTTA
XM_011542844.3:c.4274_4275+8delinsAGGTCTCTTA
XM_011542845.2:c.4010_4011+8delinsAGGTCTCTTA
XM_017017789.2:c.5318_5319+8delinsAGGTCTCTTA
XM_017017790.2:c.5318_5319+8delinsAGGTCTCTTA
XM_017017791.1:c.5318_5319+8delinsAGGTCTCTTA
XM_017017792.2:c.5318_5327delinsAGGTCTCTTA	XP_016873281.1:p.Lys1773=
XR_002957150.1:n.5918_5919+8delinsAGGTCTCTTA
NM_001351834.2:c.5318_5319+8delinsAGGTCTCTTA
NM_000051.4:c.5318_5319+8delinsAGGTCTCTTA