Canonical Allele Identifier: CA2615845395

Gene: ATM

Linked Data

• gnomAD v4: 11-108223082-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223082T>C , CM000673.2:g.108223082T>C	GRCh38
NC_000011.9:g.108093809T>C , CM000673.1:g.108093809T>C	GRCh37
NC_000011.8:g.107599019T>C	NCBI36
NG_009830.1:g.5251T>C , LRG_135:g.5251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-223T>C	ENSP00000388058.2:n.-223T>C
ENST00000683914.2:c.-135T>C	ENSP00000507649.1:n.-135T>C
ENST00000713593.1:c.-135T>C	ENSP00000518889.1:n.-135T>C
ENST00000683174.1:n.16T>C
ENST00000683488.1:n.39T>C
ENST00000527805.6:c.-135T>C	ENSP00000435747.2:n.-135T>C
ENST00000675843.1:c.-135T>C MANE Select	ENSP00000501606.1:n.-135T>C
ENST00000278616.8:c.-135T>C	ENSP00000278616.4:n.-135T>C
ENST00000527805.5:c.-135T>C	ENSP00000435747.1:n.-135T>C
NM_000051.3:c.-135T>C , LRG_135t1:c.-135T>C	NP_000042.3:n.-135T>C
XM_011542843.1:c.-135T>C	XP_011541145.1:n.-135T>C
XM_011542846.1:c.-135T>C	XP_011541148.1:n.-135T>C
NM_001351834.1:c.-223T>C	NP_001338763.1:n.-223T>C
NM_001351835.1:c.-135T>C	NP_001338764.1:n.-135T>C
XM_011542842.3:c.-135T>C	XP_011541144.1:n.-135T>C
XM_011542843.2:c.-135T>C	XP_011541145.1:n.-135T>C
XM_011542844.3:c.-1157T>C	XP_011541146.1:n.-1157T>C
XM_017017791.1:c.-135T>C	XP_016873280.1:n.-135T>C
XM_017017792.2:c.-135T>C	XP_016873281.1:n.-135T>C
XR_002957150.1:n.599T>C
NM_001351834.2:c.-223T>C	NP_001338763.1:n.-223T>C
NM_000051.4:c.-135T>C MANE Select	NP_000042.3:n.-135T>C
NM_001351835.2:c.-135T>C	NP_001338764.1:n.-135T>C