Canonical Allele Identifier: CA2615843440

Gene: ATM

Linked Data

• gnomAD v4: 11-108244724-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244726_108244727del , CM000673.2:g.108244726_108244727del	GRCh38
NC_000011.9:g.108115453_108115454del , CM000673.1:g.108115453_108115454del	GRCh37
NC_000011.8:g.107620663_107620664del	NCBI36
NG_009830.1:g.26895_26896del , LRG_135:g.26895_26896del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.663-62_663-61del	ENSP00000388058.2:n.663-62_663-61del
ENST00000713593.1:c.*134-62_*134-61del	ENSP00000518889.1:n.*134-62_*134-61del
ENST00000278616.9:c.663-62_663-61del	ENSP00000278616.4:n.663-62_663-61del
ENST00000682430.1:n.762-62_762-61del
ENST00000682516.1:n.797-62_797-61del
ENST00000682956.1:n.797-62_797-61del
ENST00000683100.1:n.2948_2949del
ENST00000683174.1:n.813-62_813-61del
ENST00000683605.1:n.158-62_158-61del
ENST00000684037.1:c.663-62_663-61del	ENSP00000508245.1:n.663-62_663-61del
ENST00000684061.1:n.797-62_797-61del
ENST00000684179.1:n.632-62_632-61del
ENST00000527805.6:c.663-62_663-61del	ENSP00000435747.2:n.663-62_663-61del
ENST00000675595.1:c.498-62_498-61del	ENSP00000502563.1:n.498-62_498-61del
ENST00000675843.1:c.663-62_663-61del MANE Select	ENSP00000501606.1:n.663-62_663-61del
ENST00000278616.8:c.663-62_663-61del	ENSP00000278616.4:n.663-62_663-61del
ENST00000452508.6:c.663-62_663-61del	ENSP00000388058.2:n.663-62_663-61del
ENST00000527805.5:c.663-62_663-61del	ENSP00000435747.1:n.663-62_663-61del
NM_000051.3:c.663-62_663-61del , LRG_135t1:c.663-62_663-61del	NP_000042.3:n.663-62_663-61del
XM_005271561.3:c.663-62_663-61del	XP_005271618.2:n.663-62_663-61del
XM_005271562.3:c.663-62_663-61del	XP_005271619.2:n.663-62_663-61del
XM_006718843.2:c.663-62_663-61del	XP_006718906.1:n.663-62_663-61del
XM_011542840.1:c.663-62_663-61del	XP_011541142.1:n.663-62_663-61del
XM_011542841.1:c.663-62_663-61del	XP_011541143.1:n.663-62_663-61del
XM_011542842.1:c.498-62_498-61del	XP_011541144.1:n.498-62_498-61del
XM_011542843.1:c.663-62_663-61del	XP_011541145.1:n.663-62_663-61del
XM_011542844.1:c.-382-62_-382-61del	XP_011541146.1:n.-382-62_-382-61del
XM_011542846.1:c.663-62_663-61del	XP_011541148.1:n.663-62_663-61del
NM_001351834.1:c.663-62_663-61del	NP_001338763.1:n.663-62_663-61del
XM_005271562.5:c.663-62_663-61del	XP_005271619.2:n.663-62_663-61del
XM_006718843.4:c.663-62_663-61del	XP_006718906.1:n.663-62_663-61del
XM_011542840.3:c.663-62_663-61del	XP_011541142.1:n.663-62_663-61del
XM_011542842.3:c.498-62_498-61del	XP_011541144.1:n.498-62_498-61del
XM_011542843.2:c.663-62_663-61del	XP_011541145.1:n.663-62_663-61del
XM_011542844.3:c.-382-62_-382-61del	XP_011541146.1:n.-382-62_-382-61del
XM_017017789.2:c.663-62_663-61del	XP_016873278.1:n.663-62_663-61del
XM_017017790.2:c.663-62_663-61del	XP_016873279.1:n.663-62_663-61del
XM_017017791.1:c.663-62_663-61del	XP_016873280.1:n.663-62_663-61del
XM_017017792.2:c.663-62_663-61del	XP_016873281.1:n.663-62_663-61del
XR_002957150.1:n.1396-62_1396-61del
NM_001351834.2:c.663-62_663-61del	NP_001338763.1:n.663-62_663-61del
NM_000051.4:c.663-62_663-61del MANE Select	NP_000042.3:n.663-62_663-61del