Canonical Allele Identifier: CA16041412

Gene: ATM

Linked Data

• ClinVar Variation Id: 371007
• ClinVar RCV Id: RCV000412136 ; RCV000775841 ; RCV001030531 ; RCV003168593 ; RCV004022141
• dbSNP Id: rs587781927
• gnomAD v4: 11-108293479-T-A
• MyVariant Identifiers: chr11:g.108164206T>A (hg19) ; chr11:g.108293479T>A (hg38)
• PubMed: PMID:9600235 ; PMID:9711876

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108293479T>A , CM000673.2:g.108293479T>A	GRCh38
NC_000011.9:g.108164206T>A , CM000673.1:g.108164206T>A	GRCh37
NC_000011.8:g.107669416T>A	NCBI36
NG_009830.1:g.75648T>A , LRG_135:g.75648T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4776+2T>A	ENSP00000388058.2:n.4776+2T>A
ENST00000713593.1:c.*4247+2T>A	ENSP00000518889.1:n.*4247+2T>A
ENST00000278616.9:c.4776+2T>A	ENSP00000278616.4:n.4776+2T>A
ENST00000683174.1:n.4926+2T>A
ENST00000683524.1:n.133+2T>A
ENST00000527805.6:c.4611+686T>A	ENSP00000435747.2:n.4611+686T>A
ENST00000675595.1:c.4611+2T>A	ENSP00000502563.1:n.4611+2T>A
ENST00000675843.1:c.4776+2T>A MANE Select	ENSP00000501606.1:n.4776+2T>A
ENST00000278616.8:c.4776+2T>A	ENSP00000278616.4:n.4776+2T>A
ENST00000452508.6:c.4776+2T>A	ENSP00000388058.2:n.4776+2T>A
ENST00000524792.5:n.991+2T>A
ENST00000531525.2:c.444-1448T>A	ENSP00000434327.2:n.444-1448T>A
ENST00000531957.1:n.93+2T>A
NM_000051.3:c.4776+2T>A , LRG_135t1:c.4776+2T>A	NP_000042.3:n.4776+2T>A
XM_005271561.3:c.4776+2T>A	XP_005271618.2:n.4776+2T>A
XM_005271562.3:c.4776+2T>A	XP_005271619.2:n.4776+2T>A
XM_006718843.2:c.4776+2T>A	XP_006718906.1:n.4776+2T>A
XM_006718845.1:c.732+2T>A	XP_006718908.1:n.732+2T>A
XM_011542840.1:c.4776+2T>A	XP_011541142.1:n.4776+2T>A
XM_011542841.1:c.4776+2T>A	XP_011541143.1:n.4776+2T>A
XM_011542842.1:c.4611+2T>A	XP_011541144.1:n.4611+2T>A
XM_011542843.1:c.4776+2T>A	XP_011541145.1:n.4776+2T>A
XM_011542844.1:c.3732+2T>A	XP_011541146.1:n.3732+2T>A
XM_011542845.1:c.3468+2T>A	XP_011541147.1:n.3468+2T>A
XM_011542846.1:c.4776+2T>A	XP_011541148.1:n.4776+2T>A
NM_001351834.1:c.4776+2T>A	NP_001338763.1:n.4776+2T>A
XM_005271562.5:c.4776+2T>A	XP_005271619.2:n.4776+2T>A
XM_006718843.4:c.4776+2T>A	XP_006718906.1:n.4776+2T>A
XM_006718845.2:c.732+2T>A	XP_006718908.1:n.732+2T>A
XM_011542840.3:c.4776+2T>A	XP_011541142.1:n.4776+2T>A
XM_011542842.3:c.4611+2T>A	XP_011541144.1:n.4611+2T>A
XM_011542843.2:c.4776+2T>A	XP_011541145.1:n.4776+2T>A
XM_011542844.3:c.3732+2T>A	XP_011541146.1:n.3732+2T>A
XM_011542845.2:c.3468+2T>A	XP_011541147.1:n.3468+2T>A
XM_017017789.2:c.4776+2T>A	XP_016873278.1:n.4776+2T>A
XM_017017790.2:c.4776+2T>A	XP_016873279.1:n.4776+2T>A
XM_017017791.1:c.4776+2T>A	XP_016873280.1:n.4776+2T>A
XM_017017792.2:c.4776+2T>A	XP_016873281.1:n.4776+2T>A
XR_002957150.1:n.5509+2T>A
NM_001351834.2:c.4776+2T>A	NP_001338763.1:n.4776+2T>A
NM_000051.4:c.4776+2T>A MANE Select	NP_000042.3:n.4776+2T>A