Canonical Allele Identifier: CA2615849851

Gene: ATM

Linked Data

• gnomAD v4: 11-108287799-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287799_108287800insAAA , CM000673.2:g.108287799_108287800insAAA	GRCh38
NC_000011.9:g.108158526_108158527insAAA , CM000673.1:g.108158526_108158527insAAA	GRCh37
NC_000011.8:g.107663736_107663737insAAA	NCBI36
NG_009830.1:g.69968_69969insAAA , LRG_135:g.69968_69969insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4109+84_4109+85insAAA	ENSP00000388058.2:n.4109+84_4109+85insAAA
ENST00000713593.1:c.*3580+84_*3580+85insAAA	ENSP00000518889.1:n.*3580+84_*3580+85insAAA
ENST00000278616.9:c.4109+84_4109+85insAAA	ENSP00000278616.4:n.4109+84_4109+85insAAA
ENST00000533733.6:n.1372+84_1372+85insAAA
ENST00000683174.1:n.4259+84_4259+85insAAA
ENST00000527805.6:c.4109+84_4109+85insAAA	ENSP00000435747.2:n.4109+84_4109+85insAAA
ENST00000675595.1:c.3944+84_3944+85insAAA	ENSP00000502563.1:n.3944+84_3944+85insAAA
ENST00000675843.1:c.4109+84_4109+85insAAA MANE Select	ENSP00000501606.1:n.4109+84_4109+85insAAA
ENST00000278616.8:c.4109+84_4109+85insAAA	ENSP00000278616.4:n.4109+84_4109+85insAAA
ENST00000452508.6:c.4109+84_4109+85insAAA	ENSP00000388058.2:n.4109+84_4109+85insAAA
ENST00000524792.5:n.324+84_324+85insAAA
ENST00000531525.2:c.116+84_116+85insAAA	ENSP00000434327.2:n.116+84_116+85insAAA
ENST00000533733.5:n.538+84_538+85insAAA
NM_000051.3:c.4109+84_4109+85insAAA , LRG_135t1:c.4109+84_4109+85insAAA	NP_000042.3:n.4109+84_4109+85insAAA
XM_005271561.3:c.4109+84_4109+85insAAA	XP_005271618.2:n.4109+84_4109+85insAAA
XM_005271562.3:c.4109+84_4109+85insAAA	XP_005271619.2:n.4109+84_4109+85insAAA
XM_006718843.2:c.4109+84_4109+85insAAA	XP_006718906.1:n.4109+84_4109+85insAAA
XM_006718845.1:c.65+84_65+85insAAA	XP_006718908.1:n.65+84_65+85insAAA
XM_011542840.1:c.4109+84_4109+85insAAA	XP_011541142.1:n.4109+84_4109+85insAAA
XM_011542841.1:c.4109+84_4109+85insAAA	XP_011541143.1:n.4109+84_4109+85insAAA
XM_011542842.1:c.3944+84_3944+85insAAA	XP_011541144.1:n.3944+84_3944+85insAAA
XM_011542843.1:c.4109+84_4109+85insAAA	XP_011541145.1:n.4109+84_4109+85insAAA
XM_011542844.1:c.3065+84_3065+85insAAA	XP_011541146.1:n.3065+84_3065+85insAAA
XM_011542845.1:c.2801+84_2801+85insAAA	XP_011541147.1:n.2801+84_2801+85insAAA
XM_011542846.1:c.4109+84_4109+85insAAA	XP_011541148.1:n.4109+84_4109+85insAAA
NM_001351834.1:c.4109+84_4109+85insAAA	NP_001338763.1:n.4109+84_4109+85insAAA
XM_005271562.5:c.4109+84_4109+85insAAA	XP_005271619.2:n.4109+84_4109+85insAAA
XM_006718843.4:c.4109+84_4109+85insAAA	XP_006718906.1:n.4109+84_4109+85insAAA
XM_006718845.2:c.65+84_65+85insAAA	XP_006718908.1:n.65+84_65+85insAAA
XM_011542840.3:c.4109+84_4109+85insAAA	XP_011541142.1:n.4109+84_4109+85insAAA
XM_011542842.3:c.3944+84_3944+85insAAA	XP_011541144.1:n.3944+84_3944+85insAAA
XM_011542843.2:c.4109+84_4109+85insAAA	XP_011541145.1:n.4109+84_4109+85insAAA
XM_011542844.3:c.3065+84_3065+85insAAA	XP_011541146.1:n.3065+84_3065+85insAAA
XM_011542845.2:c.2801+84_2801+85insAAA	XP_011541147.1:n.2801+84_2801+85insAAA
XM_017017789.2:c.4109+84_4109+85insAAA	XP_016873278.1:n.4109+84_4109+85insAAA
XM_017017790.2:c.4109+84_4109+85insAAA	XP_016873279.1:n.4109+84_4109+85insAAA
XM_017017791.1:c.4109+84_4109+85insAAA	XP_016873280.1:n.4109+84_4109+85insAAA
XM_017017792.2:c.4109+84_4109+85insAAA	XP_016873281.1:n.4109+84_4109+85insAAA
XR_002957150.1:n.4842+84_4842+85insAAA
NM_001351834.2:c.4109+84_4109+85insAAA	NP_001338763.1:n.4109+84_4109+85insAAA
NM_000051.4:c.4109+84_4109+85insAAA MANE Select	NP_000042.3:n.4109+84_4109+85insAAA