Canonical Allele Identifier: CA2793548536

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108245023_108245024insCACACCCAACAC , CM000673.2:g.108245023_108245024insCACACCCAACAC	GRCh38
NC_000011.9:g.108115750_108115751insCACACCCAACAC , CM000673.1:g.108115750_108115751insCACACCCAACAC	GRCh37
NC_000011.8:g.107620960_107620961insCACACCCAACAC	NCBI36
NG_009830.1:g.27192_27193insCACACCCAACAC , LRG_135:g.27192_27193insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.898_899insCACACCCAACAC	ENSP00000388058.2:p.Lys300delinsThrHisProThrGln
ENST00000713593.1:c.*369_*370insCACACCCAACAC	ENSP00000518889.1:n.*369_*370insCACACCCAACAC
ENST00000278616.9:c.898_899insCACACCCAACAC	ENSP00000278616.4:p.Lys300delinsThrHisProThrGln
ENST00000682516.1:n.1032_1033insCACACCCAACAC
ENST00000682956.1:n.1032_1033insCACACCCAACAC
ENST00000683100.1:n.3245_3246insCACACCCAACAC
ENST00000683174.1:n.1048_1049insCACACCCAACAC
ENST00000683605.1:n.393_394insCACACCCAACAC
ENST00000684037.1:c.898_899insCACACCCAACAC	ENSP00000508245.1:p.Lys300delinsThrHisProThrGln
ENST00000684061.1:n.1032_1033insCACACCCAACAC
ENST00000684179.1:n.867_868insCACACCCAACAC
ENST00000527805.6:c.898_899insCACACCCAACAC	ENSP00000435747.2:p.Lys300delinsThrHisProThrGln
ENST00000675595.1:c.733_734insCACACCCAACAC	ENSP00000502563.1:p.Lys245delinsThrHisProThrGln
ENST00000675843.1:c.898_899insCACACCCAACAC MANE Select	ENSP00000501606.1:p.Lys300delinsThrHisProThrGln
ENST00000278616.8:c.898_899insCACACCCAACAC	ENSP00000278616.4:p.Lys300delinsThrHisProThrGln
ENST00000452508.6:c.898_899insCACACCCAACAC	ENSP00000388058.2:p.Lys300delinsThrHisProThrGln
ENST00000527805.5:c.898_899insCACACCCAACAC	ENSP00000435747.1:p.Lys300delinsThrHisProThrGln
NM_000051.3:c.898_899insCACACCCAACAC , LRG_135t1:c.898_899insCACACCCAACAC	NP_000042.3:p.Lys300delinsThrHisProThrGln
XM_005271561.3:c.898_899insCACACCCAACAC	XP_005271618.2:p.Lys300delinsThrHisProThrGln
XM_005271562.3:c.898_899insCACACCCAACAC	XP_005271619.2:p.Lys300delinsThrHisProThrGln
XM_006718843.2:c.898_899insCACACCCAACAC	XP_006718906.1:p.Lys300delinsThrHisProThrGln
XM_011542840.1:c.898_899insCACACCCAACAC	XP_011541142.1:p.Lys300delinsThrHisProThrGln
XM_011542841.1:c.898_899insCACACCCAACAC	XP_011541143.1:p.Lys300delinsThrHisProThrGln
XM_011542842.1:c.733_734insCACACCCAACAC	XP_011541144.1:p.Lys245delinsThrHisProThrGln
XM_011542843.1:c.898_899insCACACCCAACAC	XP_011541145.1:p.Lys300delinsThrHisProThrGln
XM_011542844.1:c.-147_-146insCACACCCAACAC	XP_011541146.1:n.-147_-146insCACACCCAACAC
XM_011542846.1:c.898_899insCACACCCAACAC	XP_011541148.1:p.Lys300delinsThrHisProThrGln
NM_001351834.1:c.898_899insCACACCCAACAC	NP_001338763.1:p.Lys300delinsThrHisProThrGln
XM_005271562.5:c.898_899insCACACCCAACAC	XP_005271619.2:p.Lys300delinsThrHisProThrGln
XM_006718843.4:c.898_899insCACACCCAACAC	XP_006718906.1:p.Lys300delinsThrHisProThrGln
XM_011542840.3:c.898_899insCACACCCAACAC	XP_011541142.1:p.Lys300delinsThrHisProThrGln
XM_011542842.3:c.733_734insCACACCCAACAC	XP_011541144.1:p.Lys245delinsThrHisProThrGln
XM_011542843.2:c.898_899insCACACCCAACAC	XP_011541145.1:p.Lys300delinsThrHisProThrGln
XM_011542844.3:c.-147_-146insCACACCCAACAC	XP_011541146.1:n.-147_-146insCACACCCAACAC
XM_017017789.2:c.898_899insCACACCCAACAC	XP_016873278.1:p.Lys300delinsThrHisProThrGln
XM_017017790.2:c.898_899insCACACCCAACAC	XP_016873279.1:p.Lys300delinsThrHisProThrGln
XM_017017791.1:c.898_899insCACACCCAACAC	XP_016873280.1:p.Lys300delinsThrHisProThrGln
XM_017017792.2:c.898_899insCACACCCAACAC	XP_016873281.1:p.Lys300delinsThrHisProThrGln
XR_002957150.1:n.1631_1632insCACACCCAACAC
NM_001351834.2:c.898_899insCACACCCAACAC	NP_001338763.1:p.Lys300delinsThrHisProThrGln
NM_000051.4:c.898_899insCACACCCAACAC MANE Select	NP_000042.3:p.Lys300delinsThrHisProThrGln