Canonical Allele Identifier: CA942019890

Gene: ATM

Linked Data

• dbSNP Id: rs2079190127
• gnomAD v3: 11-108234863-GGT-G
• gnomAD v4: 11-108234863-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108234866_108234867del , CM000673.2:g.108234866_108234867del	GRCh38
NC_000011.9:g.108105593_108105594del , CM000673.1:g.108105593_108105594del	GRCh37
NC_000011.8:g.107610803_107610804del	NCBI36
NG_009830.1:g.17035_17036del , LRG_135:g.17035_17036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.332-804_332-803del	ENSP00000388058.2:n.332-804_332-803del
ENST00000713593.1:c.332-804_332-803del	ENSP00000518889.1:n.332-804_332-803del
ENST00000278616.9:c.332-804_332-803del	ENSP00000278616.4:n.332-804_332-803del
ENST00000682147.1:n.462-804_462-803del
ENST00000682430.1:n.431-804_431-803del
ENST00000682516.1:n.466-804_466-803del
ENST00000682956.1:n.466-804_466-803del
ENST00000683174.1:n.482-804_482-803del
ENST00000684029.1:c.332-804_332-803del	ENSP00000508010.1:n.332-804_332-803del
ENST00000684037.1:c.332-804_332-803del	ENSP00000508245.1:n.332-804_332-803del
ENST00000684061.1:n.466-804_466-803del
ENST00000684179.1:n.465+5543_465+5544del
ENST00000527805.6:c.332-804_332-803del	ENSP00000435747.2:n.332-804_332-803del
ENST00000675595.1:c.331+5543_331+5544del	ENSP00000502563.1:n.331+5543_331+5544del
ENST00000675843.1:c.332-804_332-803del MANE Select	ENSP00000501606.1:n.332-804_332-803del
ENST00000278616.8:c.332-804_332-803del	ENSP00000278616.4:n.332-804_332-803del
ENST00000452508.6:c.332-804_332-803del	ENSP00000388058.2:n.332-804_332-803del
ENST00000527805.5:c.332-804_332-803del	ENSP00000435747.1:n.332-804_332-803del
ENST00000527891.5:c.331+5543_331+5544del	ENSP00000433955.1:n.331+5543_331+5544del
ENST00000530958.5:c.332-804_332-803del	ENSP00000483338.1:n.332-804_332-803del
ENST00000601453.2:c.332-804_332-803del	ENSP00000469471.1:n.332-804_332-803del
NM_000051.3:c.332-804_332-803del , LRG_135t1:c.332-804_332-803del	NP_000042.3:n.332-804_332-803del
XM_005271561.3:c.332-804_332-803del	XP_005271618.2:n.332-804_332-803del
XM_005271562.3:c.332-804_332-803del	XP_005271619.2:n.332-804_332-803del
XM_006718843.2:c.332-804_332-803del	XP_006718906.1:n.332-804_332-803del
XM_011542840.1:c.332-804_332-803del	XP_011541142.1:n.332-804_332-803del
XM_011542841.1:c.332-804_332-803del	XP_011541143.1:n.332-804_332-803del
XM_011542842.1:c.331+5543_331+5544del	XP_011541144.1:n.331+5543_331+5544del
XM_011542843.1:c.332-804_332-803del	XP_011541145.1:n.332-804_332-803del
XM_011542846.1:c.332-804_332-803del	XP_011541148.1:n.332-804_332-803del
NM_001351834.1:c.332-804_332-803del	NP_001338763.1:n.332-804_332-803del
XM_005271562.5:c.332-804_332-803del	XP_005271619.2:n.332-804_332-803del
XM_006718843.4:c.332-804_332-803del	XP_006718906.1:n.332-804_332-803del
XM_011542840.3:c.332-804_332-803del	XP_011541142.1:n.332-804_332-803del
XM_011542842.3:c.331+5543_331+5544del	XP_011541144.1:n.331+5543_331+5544del
XM_011542843.2:c.332-804_332-803del	XP_011541145.1:n.332-804_332-803del
XM_011542844.3:c.-691-804_-691-803del	XP_011541146.1:n.-691-804_-691-803del
XM_017017789.2:c.332-804_332-803del	XP_016873278.1:n.332-804_332-803del
XM_017017790.2:c.332-804_332-803del	XP_016873279.1:n.332-804_332-803del
XM_017017791.1:c.332-804_332-803del	XP_016873280.1:n.332-804_332-803del
XM_017017792.2:c.332-804_332-803del	XP_016873281.1:n.332-804_332-803del
XR_002957150.1:n.1065-804_1065-803del
NM_001351834.2:c.332-804_332-803del	NP_001338763.1:n.332-804_332-803del
NM_000051.4:c.332-804_332-803del MANE Select	NP_000042.3:n.332-804_332-803del