Canonical Allele Identifier: CA1998757820

Gene: ATM

Linked Data

• dbSNP Id: rs2078557697
• gnomAD v4: 11-108222918-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108222918C>T , CM000673.2:g.108222918C>T	GRCh38
NC_000011.9:g.108093645C>T , CM000673.1:g.108093645C>T	GRCh37
NC_000011.8:g.107598855C>T	NCBI36
NG_009830.1:g.5087C>T , LRG_135:g.5087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-387C>T	ENSP00000388058.2:n.-387C>T
ENST00000683914.2:c.-299C>T	ENSP00000507649.1:n.-299C>T
ENST00000278616.8:c.-299C>T	ENSP00000278616.4:n.-299C>T
ENST00000527805.5:c.-299C>T	ENSP00000435747.1:n.-299C>T
NM_000051.3:c.-299C>T , LRG_135t1:c.-299C>T	NP_000042.3:n.-299C>T
XM_011542843.1:c.-299C>T	XP_011541145.1:n.-299C>T
XM_011542846.1:c.-299C>T	XP_011541148.1:n.-299C>T
NM_001351834.1:c.-387C>T	NP_001338763.1:n.-387C>T
NM_001351835.1:c.-299C>T	NP_001338764.1:n.-299C>T
XM_011542842.3:c.-299C>T	XP_011541144.1:n.-299C>T
XM_011542843.2:c.-299C>T	XP_011541145.1:n.-299C>T
XM_011542844.3:c.-1321C>T	XP_011541146.1:n.-1321C>T
XM_017017791.1:c.-299C>T	XP_016873280.1:n.-299C>T
XM_017017792.2:c.-299C>T	XP_016873281.1:n.-299C>T
XR_002957150.1:n.435C>T