Canonical Allele Identifier: CA2615857018

Gene: ATM

Linked Data

• gnomAD v4: 11-108302810-TTCCACTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302813_108302820del , CM000673.2:g.108302813_108302820del	GRCh38
NC_000011.9:g.108173540_108173547del , CM000673.1:g.108173540_108173547del	GRCh37
NC_000011.8:g.107678750_107678757del	NCBI36
NG_009830.1:g.84982_84989del , LRG_135:g.84982_84989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5320-40_5320-33del	ENSP00000388058.2:n.5320-40_5320-33del
ENST00000713593.1:c.*4791-40_*4791-33del	ENSP00000518889.1:n.*4791-40_*4791-33del
ENST00000278616.9:c.5320-40_5320-33del	ENSP00000278616.4:n.5320-40_5320-33del
ENST00000683174.1:n.6804-40_6804-33del
ENST00000683524.1:n.544-40_544-33del
ENST00000684152.1:n.1034-40_1034-33del
ENST00000527805.6:c.*384-40_*384-33del	ENSP00000435747.2:n.*384-40_*384-33del
ENST00000675595.1:c.*384-40_*384-33del	ENSP00000502563.1:n.*384-40_*384-33del
ENST00000675843.1:c.5320-40_5320-33del MANE Select	ENSP00000501606.1:n.5320-40_5320-33del
ENST00000278616.8:c.5320-40_5320-33del	ENSP00000278616.4:n.5320-40_5320-33del
ENST00000452508.6:c.5320-40_5320-33del	ENSP00000388058.2:n.5320-40_5320-33del
ENST00000524792.5:n.1535-40_1535-33del
ENST00000533690.5:n.724-40_724-33del
ENST00000534625.1:n.549-40_549-33del
NM_000051.3:c.5320-40_5320-33del , LRG_135t1:c.5320-40_5320-33del	NP_000042.3:n.5320-40_5320-33del
XM_005271561.3:c.5320-40_5320-33del	XP_005271618.2:n.5320-40_5320-33del
XM_005271562.3:c.5320-40_5320-33del	XP_005271619.2:n.5320-40_5320-33del
XM_006718843.2:c.5320-40_5320-33del	XP_006718906.1:n.5320-40_5320-33del
XM_006718845.1:c.1276-40_1276-33del	XP_006718908.1:n.1276-40_1276-33del
XM_011542840.1:c.5320-40_5320-33del	XP_011541142.1:n.5320-40_5320-33del
XM_011542841.1:c.5320-40_5320-33del	XP_011541143.1:n.5320-40_5320-33del
XM_011542842.1:c.5155-40_5155-33del	XP_011541144.1:n.5155-40_5155-33del
XM_011542843.1:c.5320-40_5320-33del	XP_011541145.1:n.5320-40_5320-33del
XM_011542844.1:c.4276-40_4276-33del	XP_011541146.1:n.4276-40_4276-33del
XM_011542845.1:c.4012-40_4012-33del	XP_011541147.1:n.4012-40_4012-33del
XM_011542846.1:c.5319-38_5319-31del	XP_011541148.1:n.5319-38_5319-31del
XM_011542847.1:c.391-40_391-33del	XP_011541149.1:n.391-40_391-33del
NM_001351834.1:c.5320-40_5320-33del	NP_001338763.1:n.5320-40_5320-33del
XM_005271562.5:c.5320-40_5320-33del	XP_005271619.2:n.5320-40_5320-33del
XM_006718843.4:c.5320-40_5320-33del	XP_006718906.1:n.5320-40_5320-33del
XM_006718845.2:c.1276-40_1276-33del	XP_006718908.1:n.1276-40_1276-33del
XM_011542840.3:c.5320-40_5320-33del	XP_011541142.1:n.5320-40_5320-33del
XM_011542842.3:c.5155-40_5155-33del	XP_011541144.1:n.5155-40_5155-33del
XM_011542843.2:c.5320-40_5320-33del	XP_011541145.1:n.5320-40_5320-33del
XM_011542844.3:c.4276-40_4276-33del	XP_011541146.1:n.4276-40_4276-33del
XM_011542845.2:c.4012-40_4012-33del	XP_011541147.1:n.4012-40_4012-33del
XM_017017789.2:c.5320-40_5320-33del	XP_016873278.1:n.5320-40_5320-33del
XM_017017790.2:c.5320-40_5320-33del	XP_016873279.1:n.5320-40_5320-33del
XM_017017791.1:c.5320-40_5320-33del	XP_016873280.1:n.5320-40_5320-33del
XM_017017792.2:c.*1-40_*1-33del	XP_016873281.1:n.*1-40_*1-33del
XR_002957150.1:n.5920-40_5920-33del
NM_001351834.2:c.5320-40_5320-33del	NP_001338763.1:n.5320-40_5320-33del
NM_000051.4:c.5320-40_5320-33del MANE Select	NP_000042.3:n.5320-40_5320-33del