Canonical Allele Identifier: CA941945145

Gene: ATM

Linked Data

• dbSNP Id: rs2082550226
• gnomAD v3: 11-108287480-A-AAG
• gnomAD v4: 11-108287480-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287480_108287481insAG , CM000673.2:g.108287480_108287481insAG	GRCh38
NC_000011.9:g.108158207_108158208insAG , CM000673.1:g.108158207_108158208insAG	GRCh37
NC_000011.8:g.107663417_107663418insAG	NCBI36
NG_009830.1:g.69649_69650insAG , LRG_135:g.69649_69650insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3994-120_3994-119insAG	ENSP00000388058.2:n.3994-120_3994-119insAG
ENST00000713593.1:c.*3465-120_*3465-119insAG	ENSP00000518889.1:n.*3465-120_*3465-119insAG
ENST00000278616.9:c.3994-120_3994-119insAG	ENSP00000278616.4:n.3994-120_3994-119insAG
ENST00000533733.6:n.1137_1138insAG
ENST00000683174.1:n.4144-120_4144-119insAG
ENST00000527805.6:c.3994-120_3994-119insAG	ENSP00000435747.2:n.3994-120_3994-119insAG
ENST00000675595.1:c.3829-120_3829-119insAG	ENSP00000502563.1:n.3829-120_3829-119insAG
ENST00000675843.1:c.3994-120_3994-119insAG MANE Select	ENSP00000501606.1:n.3994-120_3994-119insAG
ENST00000278616.8:c.3994-120_3994-119insAG	ENSP00000278616.4:n.3994-120_3994-119insAG
ENST00000452508.6:c.3994-120_3994-119insAG	ENSP00000388058.2:n.3994-120_3994-119insAG
ENST00000524792.5:n.89_90insAG
ENST00000527805.5:c.3994-120_3994-119insAG	ENSP00000435747.1:n.3994-120_3994-119insAG
ENST00000533733.5:n.303_304insAG
NM_000051.3:c.3994-120_3994-119insAG , LRG_135t1:c.3994-120_3994-119insAG	NP_000042.3:n.3994-120_3994-119insAG
XM_005271561.3:c.3994-120_3994-119insAG	XP_005271618.2:n.3994-120_3994-119insAG
XM_005271562.3:c.3994-120_3994-119insAG	XP_005271619.2:n.3994-120_3994-119insAG
XM_006718843.2:c.3994-120_3994-119insAG	XP_006718906.1:n.3994-120_3994-119insAG
XM_006718845.1:c.-52+42_-52+43insAG	XP_006718908.1:n.-52+42_-52+43insAG
XM_011542840.1:c.3994-120_3994-119insAG	XP_011541142.1:n.3994-120_3994-119insAG
XM_011542841.1:c.3994-120_3994-119insAG	XP_011541143.1:n.3994-120_3994-119insAG
XM_011542842.1:c.3829-120_3829-119insAG	XP_011541144.1:n.3829-120_3829-119insAG
XM_011542843.1:c.3994-120_3994-119insAG	XP_011541145.1:n.3994-120_3994-119insAG
XM_011542844.1:c.2950-120_2950-119insAG	XP_011541146.1:n.2950-120_2950-119insAG
XM_011542845.1:c.2686-120_2686-119insAG	XP_011541147.1:n.2686-120_2686-119insAG
XM_011542846.1:c.3994-120_3994-119insAG	XP_011541148.1:n.3994-120_3994-119insAG
NM_001351834.1:c.3994-120_3994-119insAG	NP_001338763.1:n.3994-120_3994-119insAG
XM_005271562.5:c.3994-120_3994-119insAG	XP_005271619.2:n.3994-120_3994-119insAG
XM_006718843.4:c.3994-120_3994-119insAG	XP_006718906.1:n.3994-120_3994-119insAG
XM_006718845.2:c.-52+42_-52+43insAG	XP_006718908.1:n.-52+42_-52+43insAG
XM_011542840.3:c.3994-120_3994-119insAG	XP_011541142.1:n.3994-120_3994-119insAG
XM_011542842.3:c.3829-120_3829-119insAG	XP_011541144.1:n.3829-120_3829-119insAG
XM_011542843.2:c.3994-120_3994-119insAG	XP_011541145.1:n.3994-120_3994-119insAG
XM_011542844.3:c.2950-120_2950-119insAG	XP_011541146.1:n.2950-120_2950-119insAG
XM_011542845.2:c.2686-120_2686-119insAG	XP_011541147.1:n.2686-120_2686-119insAG
XM_017017789.2:c.3994-120_3994-119insAG	XP_016873278.1:n.3994-120_3994-119insAG
XM_017017790.2:c.3994-120_3994-119insAG	XP_016873279.1:n.3994-120_3994-119insAG
XM_017017791.1:c.3994-120_3994-119insAG	XP_016873280.1:n.3994-120_3994-119insAG
XM_017017792.2:c.3994-120_3994-119insAG	XP_016873281.1:n.3994-120_3994-119insAG
XR_002957150.1:n.4727-120_4727-119insAG
NM_001351834.2:c.3994-120_3994-119insAG	NP_001338763.1:n.3994-120_3994-119insAG
NM_000051.4:c.3994-120_3994-119insAG MANE Select	NP_000042.3:n.3994-120_3994-119insAG