Canonical Allele Identifier: CA10578966

Gene: ATM

Linked Data

• ClinVar Variation Id: 230404
• ClinVar RCV Id: RCV000219082 ; RCV000599172 ; RCV002518269 ; RCV004020653
• dbSNP Id: rs876658548
• MyVariant Identifiers: chr11:g.108114789_108114792del (hg19) ; chr11:g.108244062_108244065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244062_108244065del , CM000673.2:g.108244062_108244065del	GRCh38
NC_000011.9:g.108114789_108114792del , CM000673.1:g.108114789_108114792del	GRCh37
NC_000011.8:g.107619999_107620002del	NCBI36
NG_009830.1:g.26231_26234del , LRG_135:g.26231_26234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.606_609del	ENSP00000388058.2:p.Gly204Ter
ENST00000713593.1:c.*77_*80del	ENSP00000518889.1:n.*77_*80del
ENST00000278616.9:c.606_609del	ENSP00000278616.4:p.Gly204Ter
ENST00000682430.1:n.705_708del
ENST00000682516.1:n.740_743del
ENST00000682956.1:n.740_743del
ENST00000683100.1:n.2284_2287del
ENST00000683174.1:n.756_759del
ENST00000683605.1:n.101_104del
ENST00000684037.1:c.606_609del	ENSP00000508245.1:p.Gly204Ter
ENST00000684061.1:n.740_743del
ENST00000684179.1:n.575_578del
ENST00000527805.6:c.606_609del	ENSP00000435747.2:p.Gly204Ter
ENST00000675595.1:c.441_444del	ENSP00000502563.1:p.Gly149Ter
ENST00000675843.1:c.606_609del MANE Select	ENSP00000501606.1:p.Gly204Ter
ENST00000278616.8:c.606_609del	ENSP00000278616.4:p.Gly204Ter
ENST00000452508.6:c.606_609del	ENSP00000388058.2:p.Gly204Ter
ENST00000527805.5:c.606_609del	ENSP00000435747.1:p.Gly204Ter
ENST00000527891.5:c.441_444del	ENSP00000433955.1:p.Gly149Ter
NM_000051.3:c.606_609del , LRG_135t1:c.606_609del	NP_000042.3:p.Gly204Ter
XM_005271561.3:c.606_609del	XP_005271618.2:p.Gly204Ter
XM_005271562.3:c.606_609del	XP_005271619.2:p.Gly204Ter
XM_006718843.2:c.606_609del	XP_006718906.1:p.Gly204Ter
XM_011542840.1:c.606_609del	XP_011541142.1:p.Gly204Ter
XM_011542841.1:c.606_609del	XP_011541143.1:p.Gly204Ter
XM_011542842.1:c.441_444del	XP_011541144.1:p.Gly149Ter
XM_011542843.1:c.606_609del	XP_011541145.1:p.Gly204Ter
XM_011542844.1:c.-439_-436del	XP_011541146.1:n.-439_-436del
XM_011542846.1:c.606_609del	XP_011541148.1:p.Gly204Ter
NM_001351834.1:c.606_609del	NP_001338763.1:p.Gly204Ter
XM_005271562.5:c.606_609del	XP_005271619.2:p.Gly204Ter
XM_006718843.4:c.606_609del	XP_006718906.1:p.Gly204Ter
XM_011542840.3:c.606_609del	XP_011541142.1:p.Gly204Ter
XM_011542842.3:c.441_444del	XP_011541144.1:p.Gly149Ter
XM_011542843.2:c.606_609del	XP_011541145.1:p.Gly204Ter
XM_011542844.3:c.-439_-436del	XP_011541146.1:n.-439_-436del
XM_017017789.2:c.606_609del	XP_016873278.1:p.Gly204Ter
XM_017017790.2:c.606_609del	XP_016873279.1:p.Gly204Ter
XM_017017791.1:c.606_609del	XP_016873280.1:p.Gly204Ter
XM_017017792.2:c.606_609del	XP_016873281.1:p.Gly204Ter
XR_002957150.1:n.1339_1342del
NM_001351834.2:c.606_609del	NP_001338763.1:p.Gly204Ter
NM_000051.4:c.606_609del MANE Select	NP_000042.3:p.Gly204Ter