Canonical Allele Identifier: CA941945381

Gene: ATM

Linked Data

• dbSNP Id: rs2082571507
• gnomAD v3: 11-108287765-AAAG-A
• gnomAD v4: 11-108287765-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287769_108287771del , CM000673.2:g.108287769_108287771del	GRCh38
NC_000011.9:g.108158496_108158498del , CM000673.1:g.108158496_108158498del	GRCh37
NC_000011.8:g.107663706_107663708del	NCBI36
NG_009830.1:g.69938_69940del , LRG_135:g.69938_69940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4109+54_4109+56del	ENSP00000388058.2:n.4109+54_4109+56del
ENST00000713593.1:c.*3580+54_*3580+56del	ENSP00000518889.1:n.*3580+54_*3580+56del
ENST00000278616.9:c.4109+54_4109+56del	ENSP00000278616.4:n.4109+54_4109+56del
ENST00000533733.6:n.1372+54_1372+56del
ENST00000683174.1:n.4259+54_4259+56del
ENST00000527805.6:c.4109+54_4109+56del	ENSP00000435747.2:n.4109+54_4109+56del
ENST00000675595.1:c.3944+54_3944+56del	ENSP00000502563.1:n.3944+54_3944+56del
ENST00000675843.1:c.4109+54_4109+56del MANE Select	ENSP00000501606.1:n.4109+54_4109+56del
ENST00000278616.8:c.4109+54_4109+56del	ENSP00000278616.4:n.4109+54_4109+56del
ENST00000452508.6:c.4109+54_4109+56del	ENSP00000388058.2:n.4109+54_4109+56del
ENST00000524792.5:n.324+54_324+56del
ENST00000531525.2:c.116+54_116+56del	ENSP00000434327.2:n.116+54_116+56del
ENST00000533733.5:n.538+54_538+56del
NM_000051.3:c.4109+54_4109+56del , LRG_135t1:c.4109+54_4109+56del	NP_000042.3:n.4109+54_4109+56del
XM_005271561.3:c.4109+54_4109+56del	XP_005271618.2:n.4109+54_4109+56del
XM_005271562.3:c.4109+54_4109+56del	XP_005271619.2:n.4109+54_4109+56del
XM_006718843.2:c.4109+54_4109+56del	XP_006718906.1:n.4109+54_4109+56del
XM_006718845.1:c.65+54_65+56del	XP_006718908.1:n.65+54_65+56del
XM_011542840.1:c.4109+54_4109+56del	XP_011541142.1:n.4109+54_4109+56del
XM_011542841.1:c.4109+54_4109+56del	XP_011541143.1:n.4109+54_4109+56del
XM_011542842.1:c.3944+54_3944+56del	XP_011541144.1:n.3944+54_3944+56del
XM_011542843.1:c.4109+54_4109+56del	XP_011541145.1:n.4109+54_4109+56del
XM_011542844.1:c.3065+54_3065+56del	XP_011541146.1:n.3065+54_3065+56del
XM_011542845.1:c.2801+54_2801+56del	XP_011541147.1:n.2801+54_2801+56del
XM_011542846.1:c.4109+54_4109+56del	XP_011541148.1:n.4109+54_4109+56del
NM_001351834.1:c.4109+54_4109+56del	NP_001338763.1:n.4109+54_4109+56del
XM_005271562.5:c.4109+54_4109+56del	XP_005271619.2:n.4109+54_4109+56del
XM_006718843.4:c.4109+54_4109+56del	XP_006718906.1:n.4109+54_4109+56del
XM_006718845.2:c.65+54_65+56del	XP_006718908.1:n.65+54_65+56del
XM_011542840.3:c.4109+54_4109+56del	XP_011541142.1:n.4109+54_4109+56del
XM_011542842.3:c.3944+54_3944+56del	XP_011541144.1:n.3944+54_3944+56del
XM_011542843.2:c.4109+54_4109+56del	XP_011541145.1:n.4109+54_4109+56del
XM_011542844.3:c.3065+54_3065+56del	XP_011541146.1:n.3065+54_3065+56del
XM_011542845.2:c.2801+54_2801+56del	XP_011541147.1:n.2801+54_2801+56del
XM_017017789.2:c.4109+54_4109+56del	XP_016873278.1:n.4109+54_4109+56del
XM_017017790.2:c.4109+54_4109+56del	XP_016873279.1:n.4109+54_4109+56del
XM_017017791.1:c.4109+54_4109+56del	XP_016873280.1:n.4109+54_4109+56del
XM_017017792.2:c.4109+54_4109+56del	XP_016873281.1:n.4109+54_4109+56del
XR_002957150.1:n.4842+54_4842+56del
NM_001351834.2:c.4109+54_4109+56del	NP_001338763.1:n.4109+54_4109+56del
NM_000051.4:c.4109+54_4109+56del MANE Select	NP_000042.3:n.4109+54_4109+56del