Canonical Allele Identifier: CA913188383

Gene: ATM

Linked Data

• ClinVar Variation Id: 629331
• ClinVar RCV Id: RCV000774033
• dbSNP Id: rs1565382200

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250778_108250854delinsGACTCCATTAC , CM000673.2:g.108250778_108250854delinsGACTCCATTAC	GRCh38
NC_000011.9:g.108121505_108121581delinsGACTCCATTAC , CM000673.1:g.108121505_108121581delinsGACTCCATTAC	GRCh37
NC_000011.8:g.107626715_107626791delinsGACTCCATTAC	NCBI36
NG_009830.1:g.32947_33023delinsGACTCCATTAC , LRG_135:g.32947_33023delinsGACTCCATTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.1313_1389delinsGACTCCATTAC	ENSP00000388058.2:p.Ile438_Ala463delinsAr...
ENST00000713593.1:c.*784_*860delinsGACTCCATTAC	ENSP00000518889.1:n.*784_*860delinsGACTCC...
ENST00000278616.9:c.1313_1389delinsGACTCCATTAC	ENSP00000278616.4:p.Ile438_Ala463delinsAr...
ENST00000682516.1:n.1447_1523delinsGACTCCATTAC
ENST00000682956.1:n.1447_1523delinsGACTCCATTAC
ENST00000683174.1:n.1463_1539delinsGACTCCATTAC
ENST00000683605.1:n.808_884delinsGACTCCATTAC
ENST00000684037.1:c.*248_*324delinsGACTCCATTAC	ENSP00000508245.1:n.*248_*324delinsGACTCC...
ENST00000684061.1:n.1447_1523delinsGACTCCATTAC
ENST00000684179.1:n.1282_1358delinsGACTCCATTAC
ENST00000527805.6:c.1313_1389delinsGACTCCATTAC	ENSP00000435747.2:p.Ile438_Ala463delinsAr...
ENST00000675595.1:c.1148_1224delinsGACTCCATTAC	ENSP00000502563.1:p.Ile383_Ala408delinsAr...
ENST00000675843.1:c.1313_1389delinsGACTCCATTAC MANE Select	ENSP00000501606.1:p.Ile438_Ala463delinsAr...
ENST00000278616.8:c.1313_1389delinsGACTCCATTAC	ENSP00000278616.4:p.Ile438_Ala463delinsAr...
ENST00000452508.6:c.1313_1389delinsGACTCCATTAC	ENSP00000388058.2:p.Ile438_Ala463delinsAr...
ENST00000527805.5:c.1313_1389delinsGACTCCATTAC	ENSP00000435747.1:p.Ile438_Ala463delinsAr...
NM_000051.3:c.1313_1389delinsGACTCCATTAC , LRG_135t1:c.1313_1389delinsGACTCCATTAC	NP_000042.3:p.Ile438_Ala463delinsArgLeuHi...
XM_005271561.3:c.1313_1389delinsGACTCCATTAC	XP_005271618.2:p.Ile438_Ala463delinsArgLe...
XM_005271562.3:c.1313_1389delinsGACTCCATTAC	XP_005271619.2:p.Ile438_Ala463delinsArgLe...
XM_006718843.2:c.1313_1389delinsGACTCCATTAC	XP_006718906.1:p.Ile438_Ala463delinsArgLe...
XM_011542840.1:c.1313_1389delinsGACTCCATTAC	XP_011541142.1:p.Ile438_Ala463delinsArgLe...
XM_011542841.1:c.1313_1389delinsGACTCCATTAC	XP_011541143.1:p.Ile438_Ala463delinsArgLe...
XM_011542842.1:c.1148_1224delinsGACTCCATTAC	XP_011541144.1:p.Ile383_Ala408delinsArgLe...
XM_011542843.1:c.1313_1389delinsGACTCCATTAC	XP_011541145.1:p.Ile438_Ala463delinsArgLe...
XM_011542844.1:c.269_345delinsGACTCCATTAC	XP_011541146.1:p.Ile90_Ala115delinsArgLeu...
XM_011542845.1:c.5_81delinsGACTCCATTAC	XP_011541147.1:p.Ile2_Ala27delinsArgLeuHi...
XM_011542846.1:c.1313_1389delinsGACTCCATTAC	XP_011541148.1:p.Ile438_Ala463delinsArgLe...
NM_001351834.1:c.1313_1389delinsGACTCCATTAC	NP_001338763.1:p.Ile438_Ala463delinsArgLe...
XM_005271562.5:c.1313_1389delinsGACTCCATTAC	XP_005271619.2:p.Ile438_Ala463delinsArgLe...
XM_006718843.4:c.1313_1389delinsGACTCCATTAC	XP_006718906.1:p.Ile438_Ala463delinsArgLe...
XM_011542840.3:c.1313_1389delinsGACTCCATTAC	XP_011541142.1:p.Ile438_Ala463delinsArgLe...
XM_011542842.3:c.1148_1224delinsGACTCCATTAC	XP_011541144.1:p.Ile383_Ala408delinsArgLe...
XM_011542843.2:c.1313_1389delinsGACTCCATTAC	XP_011541145.1:p.Ile438_Ala463delinsArgLe...
XM_011542844.3:c.269_345delinsGACTCCATTAC	XP_011541146.1:p.Ile90_Ala115delinsArgLeu...
XM_011542845.2:c.5_81delinsGACTCCATTAC	XP_011541147.1:p.Ile2_Ala27delinsArgLeuHi...
XM_017017789.2:c.1313_1389delinsGACTCCATTAC	XP_016873278.1:p.Ile438_Ala463delinsArgLe...
XM_017017790.2:c.1313_1389delinsGACTCCATTAC	XP_016873279.1:p.Ile438_Ala463delinsArgLe...
XM_017017791.1:c.1313_1389delinsGACTCCATTAC	XP_016873280.1:p.Ile438_Ala463delinsArgLe...
XM_017017792.2:c.1313_1389delinsGACTCCATTAC	XP_016873281.1:p.Ile438_Ala463delinsArgLe...
XR_002957150.1:n.2046_2122delinsGACTCCATTAC
NM_001351834.2:c.1313_1389delinsGACTCCATTAC	NP_001338763.1:p.Ile438_Ala463delinsArgLe...
NM_000051.4:c.1313_1389delinsGACTCCATTAC MANE Select	NP_000042.3:p.Ile438_Ala463delinsArgLeuHi...