Canonical Allele Identifier: CA1998803639
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108307884_108307888delinsTTTTG , CM000673.2:g.108307884_108307888delinsTTTTG GRCh38
NC_000011.9:g.108178611_108178615delinsTTTTG , CM000673.1:g.108178611_108178615delinsTTTTG GRCh37
NC_000011.8:g.107683821_107683825delinsTTTTG NCBI36
NG_009830.1:g.90053_90057delinsTTTTG , LRG_135:g.90053_90057delinsTTTTG
NG_054724.1:g.166945_166949delinsCAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5675-13_5675-9delinsTTTTG ENSP00000388058.2:n.5675-13_5675-9delinsTTTTG
ENST00000713593.1:c.*5146-13_*5146-9delinsTTTTG ENSP00000518889.1:n.*5146-13_*5146-9delinsTTTTG
ENST00000278616.9:c.5675-13_5675-9delinsTTTTG ENSP00000278616.4:n.5675-13_5675-9delinsTTTTG
ENST00000525056.2:n.81_85delinsTTTTG
ENST00000682286.1:n.432-13_432-9delinsTTTTG
ENST00000682302.1:n.80_84delinsTTTTG
ENST00000683174.1:n.7159-13_7159-9delinsTTTTG
ENST00000683524.1:n.899-13_899-9delinsTTTTG
ENST00000684152.1:n.1389-13_1389-9delinsTTTTG
ENST00000527805.6:c.*739-13_*739-9delinsTTTTG ENSP00000435747.2:n.*739-13_*739-9delinsTTTTG
ENST00000675595.1:c.*739-13_*739-9delinsTTTTG ENSP00000502563.1:n.*739-13_*739-9delinsTTTTG
ENST00000675843.1:c.5675-13_5675-9delinsTTTTG MANE Select ENSP00000501606.1:n.5675-13_5675-9delinsTTTTG
ENST00000278616.8:c.5675-13_5675-9delinsTTTTG ENSP00000278616.4:n.5675-13_5675-9delinsTTTTG
ENST00000452508.6:c.5675-13_5675-9delinsTTTTG ENSP00000388058.2:n.5675-13_5675-9delinsTTTTG
ENST00000524792.5:n.1890-13_1890-9delinsTTTTG
ENST00000529588.5:c.187-2276_187-2272delinsTTTTG
ENST00000533690.5:n.1079-13_1079-9delinsTTTTG
NM_000051.3:c.5675-13_5675-9delinsTTTTG , LRG_135t1:c.5675-13_5675-9delinsTTTTG NP_000042.3:n.5675-13_5675-9delinsTTTTG
XM_005271561.3:c.5675-13_5675-9delinsTTTTG XP_005271618.2:n.5675-13_5675-9delinsTTTTG
XM_005271562.3:c.5675-13_5675-9delinsTTTTG XP_005271619.2:n.5675-13_5675-9delinsTTTTG
XM_006718843.2:c.5675-13_5675-9delinsTTTTG XP_006718906.1:n.5675-13_5675-9delinsTTTTG
XM_006718845.1:c.1631-13_1631-9delinsTTTTG XP_006718908.1:n.1631-13_1631-9delinsTTTTG
XM_011542840.1:c.5675-13_5675-9delinsTTTTG XP_011541142.1:n.5675-13_5675-9delinsTTTTG
XM_011542841.1:c.5675-13_5675-9delinsTTTTG XP_011541143.1:n.5675-13_5675-9delinsTTTTG
XM_011542842.1:c.5510-13_5510-9delinsTTTTG XP_011541144.1:n.5510-13_5510-9delinsTTTTG
XM_011542843.1:c.5675-13_5675-9delinsTTTTG XP_011541145.1:n.5675-13_5675-9delinsTTTTG
XM_011542844.1:c.4631-13_4631-9delinsTTTTG XP_011541146.1:n.4631-13_4631-9delinsTTTTG
XM_011542845.1:c.4367-13_4367-9delinsTTTTG XP_011541147.1:n.4367-13_4367-9delinsTTTTG
XM_011542847.1:c.746-13_746-9delinsTTTTG XP_011541149.1:n.746-13_746-9delinsTTTTG
NM_001351834.1:c.5675-13_5675-9delinsTTTTG NP_001338763.1:n.5675-13_5675-9delinsTTTTG
XM_005271562.5:c.5675-13_5675-9delinsTTTTG XP_005271619.2:n.5675-13_5675-9delinsTTTTG
XM_006718843.4:c.5675-13_5675-9delinsTTTTG XP_006718906.1:n.5675-13_5675-9delinsTTTTG
XM_006718845.2:c.1631-13_1631-9delinsTTTTG XP_006718908.1:n.1631-13_1631-9delinsTTTTG
XM_011542840.3:c.5675-13_5675-9delinsTTTTG XP_011541142.1:n.5675-13_5675-9delinsTTTTG
XM_011542842.3:c.5510-13_5510-9delinsTTTTG XP_011541144.1:n.5510-13_5510-9delinsTTTTG
XM_011542843.2:c.5675-13_5675-9delinsTTTTG XP_011541145.1:n.5675-13_5675-9delinsTTTTG
XM_011542844.3:c.4631-13_4631-9delinsTTTTG XP_011541146.1:n.4631-13_4631-9delinsTTTTG
XM_011542845.2:c.4367-13_4367-9delinsTTTTG XP_011541147.1:n.4367-13_4367-9delinsTTTTG
XM_017017789.2:c.5675-13_5675-9delinsTTTTG XP_016873278.1:n.5675-13_5675-9delinsTTTTG
XM_017017790.2:c.5675-13_5675-9delinsTTTTG XP_016873279.1:n.5675-13_5675-9delinsTTTTG
XM_017017791.1:c.5675-13_5675-9delinsTTTTG XP_016873280.1:n.5675-13_5675-9delinsTTTTG
XR_002957150.1:n.6275-13_6275-9delinsTTTTG
NM_001351834.2:c.5675-13_5675-9delinsTTTTG NP_001338763.1:n.5675-13_5675-9delinsTTTTG
NM_000051.4:c.5675-13_5675-9delinsTTTTG MANE Select NP_000042.3:n.5675-13_5675-9delinsTTTTG