Canonical Allele Identifier: CA2615849869

Gene: ATM

Linked Data

• gnomAD v4: 11-108287808-A-AAATATTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287808_108287809insAATATTTTTT , CM000673.2:g.108287808_108287809insAATATTTTTT	GRCh38
NC_000011.9:g.108158535_108158536insAATATTTTTT , CM000673.1:g.108158535_108158536insAATATTTTTT	GRCh37
NC_000011.8:g.107663745_107663746insAATATTTTTT	NCBI36
NG_009830.1:g.69977_69978insAATATTTTTT , LRG_135:g.69977_69978insAATATTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4109+93_4109+94insAATATTTTTT	ENSP00000388058.2:n.4109+93_4109+94insAATATTTTTT
ENST00000713593.1:c.*3580+93_*3580+94insAATATTTTTT	ENSP00000518889.1:n.*3580+93_*3580+94insAATATTTTTT
ENST00000278616.9:c.4109+93_4109+94insAATATTTTTT	ENSP00000278616.4:n.4109+93_4109+94insAATATTTTTT
ENST00000533733.6:n.1372+93_1372+94insAATATTTTTT
ENST00000683174.1:n.4259+93_4259+94insAATATTTTTT
ENST00000527805.6:c.4109+93_4109+94insAATATTTTTT	ENSP00000435747.2:n.4109+93_4109+94insAATATTTTTT
ENST00000675595.1:c.3944+93_3944+94insAATATTTTTT	ENSP00000502563.1:n.3944+93_3944+94insAATATTTTTT
ENST00000675843.1:c.4109+93_4109+94insAATATTTTTT MANE Select	ENSP00000501606.1:n.4109+93_4109+94insAATATTTTTT
ENST00000278616.8:c.4109+93_4109+94insAATATTTTTT	ENSP00000278616.4:n.4109+93_4109+94insAATATTTTTT
ENST00000452508.6:c.4109+93_4109+94insAATATTTTTT	ENSP00000388058.2:n.4109+93_4109+94insAATATTTTTT
ENST00000524792.5:n.324+93_324+94insAATATTTTTT
ENST00000531525.2:c.116+93_116+94insAATATTTTTT	ENSP00000434327.2:n.116+93_116+94insAATATTTTTT
ENST00000533733.5:n.538+93_538+94insAATATTTTTT
NM_000051.3:c.4109+93_4109+94insAATATTTTTT , LRG_135t1:c.4109+93_4109+94insAATATTTTTT	NP_000042.3:n.4109+93_4109+94insAATATTTTTT
XM_005271561.3:c.4109+93_4109+94insAATATTTTTT	XP_005271618.2:n.4109+93_4109+94insAATATTTTTT
XM_005271562.3:c.4109+93_4109+94insAATATTTTTT	XP_005271619.2:n.4109+93_4109+94insAATATTTTTT
XM_006718843.2:c.4109+93_4109+94insAATATTTTTT	XP_006718906.1:n.4109+93_4109+94insAATATTTTTT
XM_006718845.1:c.65+93_65+94insAATATTTTTT	XP_006718908.1:n.65+93_65+94insAATATTTTTT
XM_011542840.1:c.4109+93_4109+94insAATATTTTTT	XP_011541142.1:n.4109+93_4109+94insAATATTTTTT
XM_011542841.1:c.4109+93_4109+94insAATATTTTTT	XP_011541143.1:n.4109+93_4109+94insAATATTTTTT
XM_011542842.1:c.3944+93_3944+94insAATATTTTTT	XP_011541144.1:n.3944+93_3944+94insAATATTTTTT
XM_011542843.1:c.4109+93_4109+94insAATATTTTTT	XP_011541145.1:n.4109+93_4109+94insAATATTTTTT
XM_011542844.1:c.3065+93_3065+94insAATATTTTTT	XP_011541146.1:n.3065+93_3065+94insAATATTTTTT
XM_011542845.1:c.2801+93_2801+94insAATATTTTTT	XP_011541147.1:n.2801+93_2801+94insAATATTTTTT
XM_011542846.1:c.4109+93_4109+94insAATATTTTTT	XP_011541148.1:n.4109+93_4109+94insAATATTTTTT
NM_001351834.1:c.4109+93_4109+94insAATATTTTTT	NP_001338763.1:n.4109+93_4109+94insAATATTTTTT
XM_005271562.5:c.4109+93_4109+94insAATATTTTTT	XP_005271619.2:n.4109+93_4109+94insAATATTTTTT
XM_006718843.4:c.4109+93_4109+94insAATATTTTTT	XP_006718906.1:n.4109+93_4109+94insAATATTTTTT
XM_006718845.2:c.65+93_65+94insAATATTTTTT	XP_006718908.1:n.65+93_65+94insAATATTTTTT
XM_011542840.3:c.4109+93_4109+94insAATATTTTTT	XP_011541142.1:n.4109+93_4109+94insAATATTTTTT
XM_011542842.3:c.3944+93_3944+94insAATATTTTTT	XP_011541144.1:n.3944+93_3944+94insAATATTTTTT
XM_011542843.2:c.4109+93_4109+94insAATATTTTTT	XP_011541145.1:n.4109+93_4109+94insAATATTTTTT
XM_011542844.3:c.3065+93_3065+94insAATATTTTTT	XP_011541146.1:n.3065+93_3065+94insAATATTTTTT
XM_011542845.2:c.2801+93_2801+94insAATATTTTTT	XP_011541147.1:n.2801+93_2801+94insAATATTTTTT
XM_017017789.2:c.4109+93_4109+94insAATATTTTTT	XP_016873278.1:n.4109+93_4109+94insAATATTTTTT
XM_017017790.2:c.4109+93_4109+94insAATATTTTTT	XP_016873279.1:n.4109+93_4109+94insAATATTTTTT
XM_017017791.1:c.4109+93_4109+94insAATATTTTTT	XP_016873280.1:n.4109+93_4109+94insAATATTTTTT
XM_017017792.2:c.4109+93_4109+94insAATATTTTTT	XP_016873281.1:n.4109+93_4109+94insAATATTTTTT
XR_002957150.1:n.4842+93_4842+94insAATATTTTTT
NM_001351834.2:c.4109+93_4109+94insAATATTTTTT	NP_001338763.1:n.4109+93_4109+94insAATATTTTTT
NM_000051.4:c.4109+93_4109+94insAATATTTTTT MANE Select	NP_000042.3:n.4109+93_4109+94insAATATTTTTT