Canonical Allele Identifier: CA2615848563

Gene: ATM

Linked Data

• gnomAD v4: 11-108287429-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287429G>T , CM000673.2:g.108287429G>T	GRCh38
NC_000011.9:g.108158156G>T , CM000673.1:g.108158156G>T	GRCh37
NC_000011.8:g.107663366G>T	NCBI36
NG_009830.1:g.69598G>T , LRG_135:g.69598G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3994-171G>T	ENSP00000388058.2:n.3994-171G>T
ENST00000713593.1:c.*3465-171G>T	ENSP00000518889.1:n.*3465-171G>T
ENST00000278616.9:c.3994-171G>T	ENSP00000278616.4:n.3994-171G>T
ENST00000533733.6:n.1086G>T
ENST00000683174.1:n.4144-171G>T
ENST00000527805.6:c.3994-171G>T	ENSP00000435747.2:n.3994-171G>T
ENST00000675595.1:c.3829-171G>T	ENSP00000502563.1:n.3829-171G>T
ENST00000675843.1:c.3994-171G>T MANE Select	ENSP00000501606.1:n.3994-171G>T
ENST00000278616.8:c.3994-171G>T	ENSP00000278616.4:n.3994-171G>T
ENST00000452508.6:c.3994-171G>T	ENSP00000388058.2:n.3994-171G>T
ENST00000524792.5:n.38G>T
ENST00000527805.5:c.3994-171G>T	ENSP00000435747.1:n.3994-171G>T
ENST00000533733.5:n.252G>T
NM_000051.3:c.3994-171G>T , LRG_135t1:c.3994-171G>T	NP_000042.3:n.3994-171G>T
XM_005271561.3:c.3994-171G>T	XP_005271618.2:n.3994-171G>T
XM_005271562.3:c.3994-171G>T	XP_005271619.2:n.3994-171G>T
XM_006718843.2:c.3994-171G>T	XP_006718906.1:n.3994-171G>T
XM_006718845.1:c.-61G>T	XP_006718908.1:n.-61G>T
XM_011542840.1:c.3994-171G>T	XP_011541142.1:n.3994-171G>T
XM_011542841.1:c.3994-171G>T	XP_011541143.1:n.3994-171G>T
XM_011542842.1:c.3829-171G>T	XP_011541144.1:n.3829-171G>T
XM_011542843.1:c.3994-171G>T	XP_011541145.1:n.3994-171G>T
XM_011542844.1:c.2950-171G>T	XP_011541146.1:n.2950-171G>T
XM_011542845.1:c.2686-171G>T	XP_011541147.1:n.2686-171G>T
XM_011542846.1:c.3994-171G>T	XP_011541148.1:n.3994-171G>T
NM_001351834.1:c.3994-171G>T	NP_001338763.1:n.3994-171G>T
XM_005271562.5:c.3994-171G>T	XP_005271619.2:n.3994-171G>T
XM_006718843.4:c.3994-171G>T	XP_006718906.1:n.3994-171G>T
XM_006718845.2:c.-61G>T	XP_006718908.1:n.-61G>T
XM_011542840.3:c.3994-171G>T	XP_011541142.1:n.3994-171G>T
XM_011542842.3:c.3829-171G>T	XP_011541144.1:n.3829-171G>T
XM_011542843.2:c.3994-171G>T	XP_011541145.1:n.3994-171G>T
XM_011542844.3:c.2950-171G>T	XP_011541146.1:n.2950-171G>T
XM_011542845.2:c.2686-171G>T	XP_011541147.1:n.2686-171G>T
XM_017017789.2:c.3994-171G>T	XP_016873278.1:n.3994-171G>T
XM_017017790.2:c.3994-171G>T	XP_016873279.1:n.3994-171G>T
XM_017017791.1:c.3994-171G>T	XP_016873280.1:n.3994-171G>T
XM_017017792.2:c.3994-171G>T	XP_016873281.1:n.3994-171G>T
XR_002957150.1:n.4727-171G>T
NM_001351834.2:c.3994-171G>T	NP_001338763.1:n.3994-171G>T
NM_000051.4:c.3994-171G>T MANE Select	NP_000042.3:n.3994-171G>T