Canonical Allele Identifier: CA2615845733

Gene: ATM

Linked Data

• gnomAD v4: 11-108223167-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223167T>C , CM000673.2:g.108223167T>C	GRCh38
NC_000011.9:g.108093894T>C , CM000673.1:g.108093894T>C	GRCh37
NC_000011.8:g.107599104T>C	NCBI36
NG_009830.1:g.5336T>C , LRG_135:g.5336T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-138T>C	ENSP00000388058.2:n.-138T>C
ENST00000683914.2:c.-50T>C	ENSP00000507649.1:n.-50T>C
ENST00000713593.1:c.-50T>C	ENSP00000518889.1:n.-50T>C
ENST00000683150.1:c.-201T>C	ENSP00000507125.1:n.-201T>C
ENST00000683174.1:n.101T>C
ENST00000683468.1:c.-4458T>C	ENSP00000508178.1:n.-4458T>C
ENST00000683488.1:n.124T>C
ENST00000683914.1:c.-50T>C	ENSP00000507649.1:n.-50T>C
ENST00000527805.6:c.-50T>C	ENSP00000435747.2:n.-50T>C
ENST00000675595.1:c.-50T>C	ENSP00000502563.1:n.-50T>C
ENST00000675843.1:c.-50T>C MANE Select	ENSP00000501606.1:n.-50T>C
ENST00000278616.8:c.-50T>C	ENSP00000278616.4:n.-50T>C
ENST00000452508.6:c.-138T>C	ENSP00000388058.2:n.-138T>C
ENST00000527805.5:c.-50T>C	ENSP00000435747.1:n.-50T>C
ENST00000527891.5:c.-50T>C	ENSP00000433955.1:n.-50T>C
ENST00000530958.5:c.-4458T>C	ENSP00000483338.1:n.-4458T>C
ENST00000532931.5:c.-124T>C	ENSP00000432318.1:n.-124T>C
NM_000051.3:c.-50T>C , LRG_135t1:c.-50T>C	NP_000042.3:n.-50T>C
XM_005271561.3:c.-138T>C	XP_005271618.2:n.-138T>C
XM_011542841.1:c.-841T>C	XP_011541143.1:n.-841T>C
XM_011542842.1:c.-50T>C	XP_011541144.1:n.-50T>C
XM_011542843.1:c.-50T>C	XP_011541145.1:n.-50T>C
XM_011542846.1:c.-50T>C	XP_011541148.1:n.-50T>C
NM_001351834.1:c.-138T>C	NP_001338763.1:n.-138T>C
NM_001351835.1:c.-50T>C	NP_001338764.1:n.-50T>C
XM_011542842.3:c.-50T>C	XP_011541144.1:n.-50T>C
XM_011542843.2:c.-50T>C	XP_011541145.1:n.-50T>C
XM_011542844.3:c.-1072T>C	XP_011541146.1:n.-1072T>C
XM_017017791.1:c.-50T>C	XP_016873280.1:n.-50T>C
XM_017017792.2:c.-50T>C	XP_016873281.1:n.-50T>C
XR_002957150.1:n.684T>C
NM_001351834.2:c.-138T>C	NP_001338763.1:n.-138T>C
NM_000051.4:c.-50T>C MANE Select	NP_000042.3:n.-50T>C
NM_001351835.2:c.-50T>C	NP_001338764.1:n.-50T>C