Canonical Allele Identifier: CA16613040

Gene: ATM

Linked Data

• ClinVar Variation Id: 407666
• ClinVar RCV Id: RCV000459149 ; RCV000478023 ; RCV000581203 ; RCV001704556
• dbSNP Id: rs1060501665
• gnomAD v2: 11-108158312-TTTGTGCCC-T
• gnomAD v3: 11-108287585-TTTGTGCCC-T
• gnomAD v4: 11-108287585-TTTGTGCCC-T
• MyVariant Identifiers: chr11:g.108158316_108158323del (hg19) ; chr11:g.108158313_108158320del (hg19) ; chr11:g.108287589_108287596del (hg38) ; chr11:g.108287586_108287593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287589_108287596del , CM000673.2:g.108287589_108287596del	GRCh38
NC_000011.9:g.108158316_108158323del , CM000673.1:g.108158316_108158323del	GRCh37
NC_000011.8:g.107663526_107663533del	NCBI36
NG_009830.1:g.69758_69765del , LRG_135:g.69758_69765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3994-11_3994-4del	ENSP00000388058.2:n.3994-11_3994-4del
ENST00000713593.1:c.*3465-11_*3465-4del	ENSP00000518889.1:n.*3465-11_*3465-4del
ENST00000278616.9:c.3994-11_3994-4del	ENSP00000278616.4:n.3994-11_3994-4del
ENST00000533733.6:n.1246_1253del
ENST00000683174.1:n.4144-11_4144-4del
ENST00000527805.6:c.3994-11_3994-4del	ENSP00000435747.2:n.3994-11_3994-4del
ENST00000675595.1:c.3829-11_3829-4del	ENSP00000502563.1:n.3829-11_3829-4del
ENST00000675843.1:c.3994-11_3994-4del MANE Select	ENSP00000501606.1:n.3994-11_3994-4del
ENST00000278616.8:c.3994-11_3994-4del	ENSP00000278616.4:n.3994-11_3994-4del
ENST00000452508.6:c.3994-11_3994-4del	ENSP00000388058.2:n.3994-11_3994-4del
ENST00000524792.5:n.198_205del
ENST00000527805.5:c.3994-11_3994-4del	ENSP00000435747.1:n.3994-11_3994-4del
ENST00000533733.5:n.412_419del
NM_000051.3:c.3994-11_3994-4del , LRG_135t1:c.3994-11_3994-4del	NP_000042.3:n.3994-11_3994-4del
XM_005271561.3:c.3994-11_3994-4del	XP_005271618.2:n.3994-11_3994-4del
XM_005271562.3:c.3994-11_3994-4del	XP_005271619.2:n.3994-11_3994-4del
XM_006718843.2:c.3994-11_3994-4del	XP_006718906.1:n.3994-11_3994-4del
XM_006718845.1:c.-51-11_-51-4del	XP_006718908.1:n.-51-11_-51-4del
XM_011542840.1:c.3994-11_3994-4del	XP_011541142.1:n.3994-11_3994-4del
XM_011542841.1:c.3994-11_3994-4del	XP_011541143.1:n.3994-11_3994-4del
XM_011542842.1:c.3829-11_3829-4del	XP_011541144.1:n.3829-11_3829-4del
XM_011542843.1:c.3994-11_3994-4del	XP_011541145.1:n.3994-11_3994-4del
XM_011542844.1:c.2950-11_2950-4del	XP_011541146.1:n.2950-11_2950-4del
XM_011542845.1:c.2686-11_2686-4del	XP_011541147.1:n.2686-11_2686-4del
XM_011542846.1:c.3994-11_3994-4del	XP_011541148.1:n.3994-11_3994-4del
NM_001351834.1:c.3994-11_3994-4del	NP_001338763.1:n.3994-11_3994-4del
XM_005271562.5:c.3994-11_3994-4del	XP_005271619.2:n.3994-11_3994-4del
XM_006718843.4:c.3994-11_3994-4del	XP_006718906.1:n.3994-11_3994-4del
XM_006718845.2:c.-51-11_-51-4del	XP_006718908.1:n.-51-11_-51-4del
XM_011542840.3:c.3994-11_3994-4del	XP_011541142.1:n.3994-11_3994-4del
XM_011542842.3:c.3829-11_3829-4del	XP_011541144.1:n.3829-11_3829-4del
XM_011542843.2:c.3994-11_3994-4del	XP_011541145.1:n.3994-11_3994-4del
XM_011542844.3:c.2950-11_2950-4del	XP_011541146.1:n.2950-11_2950-4del
XM_011542845.2:c.2686-11_2686-4del	XP_011541147.1:n.2686-11_2686-4del
XM_017017789.2:c.3994-11_3994-4del	XP_016873278.1:n.3994-11_3994-4del
XM_017017790.2:c.3994-11_3994-4del	XP_016873279.1:n.3994-11_3994-4del
XM_017017791.1:c.3994-11_3994-4del	XP_016873280.1:n.3994-11_3994-4del
XM_017017792.2:c.3994-11_3994-4del	XP_016873281.1:n.3994-11_3994-4del
XR_002957150.1:n.4727-11_4727-4del
NM_001351834.2:c.3994-11_3994-4del	NP_001338763.1:n.3994-11_3994-4del
NM_000051.4:c.3994-11_3994-4del MANE Select	NP_000042.3:n.3994-11_3994-4del