Canonical Allele Identifier: CA10578987

Gene: ATM

Linked Data

• ClinVar Variation Id: 230901
• ClinVar RCV Id: RCV000216433 ; RCV000687281 ; RCV003469019
• dbSNP Id: rs876658832
• gnomAD v4: 11-108247035-CAT-C
• MyVariant Identifiers: chr11:g.108117766_108117767del (hg19) ; chr11:g.108247039_108247040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247039_108247040del , CM000673.2:g.108247039_108247040del	GRCh38
NC_000011.9:g.108117766_108117767del , CM000673.1:g.108117766_108117767del	GRCh37
NC_000011.8:g.107622976_107622977del	NCBI36
NG_009830.1:g.29208_29209del , LRG_135:g.29208_29209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.977_978del	ENSP00000388058.2:p.Ile326ArgfsTer3
ENST00000713593.1:c.*448_*449del	ENSP00000518889.1:n.*448_*449del
ENST00000278616.9:c.977_978del	ENSP00000278616.4:p.Ile326ArgfsTer3
ENST00000682516.1:n.1111_1112del
ENST00000682956.1:n.1111_1112del
ENST00000683100.1:n.3324_3325del
ENST00000683174.1:n.1127_1128del
ENST00000683605.1:n.472_473del
ENST00000684037.1:c.977_978del	ENSP00000508245.1:p.Ile326ArgfsTer3
ENST00000684061.1:n.1111_1112del
ENST00000684179.1:n.946_947del
ENST00000527805.6:c.977_978del	ENSP00000435747.2:p.Ile326ArgfsTer3
ENST00000675595.1:c.812_813del	ENSP00000502563.1:p.Ile271ArgfsTer3
ENST00000675843.1:c.977_978del MANE Select	ENSP00000501606.1:p.Ile326ArgfsTer3
ENST00000278616.8:c.977_978del	ENSP00000278616.4:p.Ile326ArgfsTer3
ENST00000452508.6:c.977_978del	ENSP00000388058.2:p.Ile326ArgfsTer3
ENST00000527805.5:c.977_978del	ENSP00000435747.1:p.Ile326ArgfsTer3
NM_000051.3:c.977_978del , LRG_135t1:c.977_978del	NP_000042.3:p.Ile326ArgfsTer3
XM_005271561.3:c.977_978del	XP_005271618.2:p.Ile326ArgfsTer3
XM_005271562.3:c.977_978del	XP_005271619.2:p.Ile326ArgfsTer3
XM_006718843.2:c.977_978del	XP_006718906.1:p.Ile326ArgfsTer3
XM_011542840.1:c.977_978del	XP_011541142.1:p.Ile326ArgfsTer3
XM_011542841.1:c.977_978del	XP_011541143.1:p.Ile326ArgfsTer3
XM_011542842.1:c.812_813del	XP_011541144.1:p.Ile271ArgfsTer3
XM_011542843.1:c.977_978del	XP_011541145.1:p.Ile326ArgfsTer3
XM_011542844.1:c.-68_-67del	XP_011541146.1:n.-68_-67del
XM_011542846.1:c.977_978del	XP_011541148.1:p.Ile326ArgfsTer3
NM_001351834.1:c.977_978del	NP_001338763.1:p.Ile326ArgfsTer3
XM_005271562.5:c.977_978del	XP_005271619.2:p.Ile326ArgfsTer3
XM_006718843.4:c.977_978del	XP_006718906.1:p.Ile326ArgfsTer3
XM_011542840.3:c.977_978del	XP_011541142.1:p.Ile326ArgfsTer3
XM_011542842.3:c.812_813del	XP_011541144.1:p.Ile271ArgfsTer3
XM_011542843.2:c.977_978del	XP_011541145.1:p.Ile326ArgfsTer3
XM_011542844.3:c.-68_-67del	XP_011541146.1:n.-68_-67del
XM_017017789.2:c.977_978del	XP_016873278.1:p.Ile326ArgfsTer3
XM_017017790.2:c.977_978del	XP_016873279.1:p.Ile326ArgfsTer3
XM_017017791.1:c.977_978del	XP_016873280.1:p.Ile326ArgfsTer3
XM_017017792.2:c.977_978del	XP_016873281.1:p.Ile326ArgfsTer3
XR_002957150.1:n.1710_1711del
NM_001351834.2:c.977_978del	NP_001338763.1:p.Ile326ArgfsTer3
NM_000051.4:c.977_978del MANE Select	NP_000042.3:p.Ile326ArgfsTer3