Canonical Allele Identifier: CA382547975

Gene: ATM

Linked Data

• gnomAD v4: 11-108307962-G-A
• MyVariant Identifiers: chr11:g.108178689G>A (hg19) ; chr11:g.108307962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307962G>A , CM000673.2:g.108307962G>A	GRCh38
NC_000011.9:g.108178689G>A , CM000673.1:g.108178689G>A	GRCh37
NC_000011.8:g.107683899G>A	NCBI36
NG_009830.1:g.90131G>A , LRG_135:g.90131G>A
NG_054724.1:g.166871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5740G>A	ENSP00000388058.2:p.Asp1914Asn
ENST00000713593.1:c.*5211G>A	ENSP00000518889.1:n.*5211G>A
ENST00000278616.9:c.5740G>A	ENSP00000278616.4:p.Asp1914Asn
ENST00000525056.2:n.159G>A
ENST00000682286.1:n.497G>A
ENST00000682302.1:n.158G>A
ENST00000683174.1:n.7224G>A
ENST00000683524.1:n.964G>A
ENST00000684152.1:n.1454G>A
ENST00000527805.6:c.*804G>A	ENSP00000435747.2:n.*804G>A
ENST00000675595.1:c.*804G>A	ENSP00000502563.1:n.*804G>A
ENST00000675843.1:c.5740G>A MANE Select	ENSP00000501606.1:p.Asp1914Asn
ENST00000278616.8:c.5740G>A	ENSP00000278616.4:p.Asp1914Asn
ENST00000452508.6:c.5740G>A	ENSP00000388058.2:p.Asp1914Asn
ENST00000524792.5:n.1955G>A
ENST00000529588.5:c.187-2198G>A
ENST00000533690.5:n.1144G>A
NM_000051.3:c.5740G>A , LRG_135t1:c.5740G>A	NP_000042.3:p.Asp1914Asn
XM_005271561.3:c.5740G>A	XP_005271618.2:p.Asp1914Asn
XM_005271562.3:c.5740G>A	XP_005271619.2:p.Asp1914Asn
XM_006718843.2:c.5740G>A	XP_006718906.1:p.Asp1914Asn
XM_006718845.1:c.1696G>A	XP_006718908.1:p.Asp566Asn
XM_011542840.1:c.5740G>A	XP_011541142.1:p.Asp1914Asn
XM_011542841.1:c.5740G>A	XP_011541143.1:p.Asp1914Asn
XM_011542842.1:c.5575G>A	XP_011541144.1:p.Asp1859Asn
XM_011542843.1:c.5740G>A	XP_011541145.1:p.Asp1914Asn
XM_011542844.1:c.4696G>A	XP_011541146.1:p.Asp1566Asn
XM_011542845.1:c.4432G>A	XP_011541147.1:p.Asp1478Asn
XM_011542847.1:c.811G>A	XP_011541149.1:p.Asp271Asn
NM_001351834.1:c.5740G>A	NP_001338763.1:p.Asp1914Asn
XM_005271562.5:c.5740G>A	XP_005271619.2:p.Asp1914Asn
XM_006718843.4:c.5740G>A	XP_006718906.1:p.Asp1914Asn
XM_006718845.2:c.1696G>A	XP_006718908.1:p.Asp566Asn
XM_011542840.3:c.5740G>A	XP_011541142.1:p.Asp1914Asn
XM_011542842.3:c.5575G>A	XP_011541144.1:p.Asp1859Asn
XM_011542843.2:c.5740G>A	XP_011541145.1:p.Asp1914Asn
XM_011542844.3:c.4696G>A	XP_011541146.1:p.Asp1566Asn
XM_011542845.2:c.4432G>A	XP_011541147.1:p.Asp1478Asn
XM_017017789.2:c.5740G>A	XP_016873278.1:p.Asp1914Asn
XM_017017790.2:c.5740G>A	XP_016873279.1:p.Asp1914Asn
XM_017017791.1:c.5740G>A	XP_016873280.1:p.Asp1914Asn
XR_002957150.1:n.6340G>A
NM_001351834.2:c.5740G>A	NP_001338763.1:p.Asp1914Asn
NM_000051.4:c.5740G>A MANE Select	NP_000042.3:p.Asp1914Asn