Canonical Allele Identifier: CA2580616434

Gene: ATM

Linked Data

• ClinVar Variation Id: 1412477
• ClinVar RCV Id: RCV001919105 ; RCV003471044
• dbSNP Id: rs2135265742
• gnomAD v4: 11-108247005-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247009_108247010del , CM000673.2:g.108247009_108247010del	GRCh38
NC_000011.9:g.108117736_108117737del , CM000673.1:g.108117736_108117737del	GRCh37
NC_000011.8:g.107622946_107622947del	NCBI36
NG_009830.1:g.29178_29179del , LRG_135:g.29178_29179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.947_948del	ENSP00000388058.2:p.Tyr316Ter
ENST00000713593.1:c.*418_*419del	ENSP00000518889.1:n.*418_*419del
ENST00000278616.9:c.947_948del	ENSP00000278616.4:p.Tyr316Ter
ENST00000682516.1:n.1081_1082del
ENST00000682956.1:n.1081_1082del
ENST00000683100.1:n.3294_3295del
ENST00000683174.1:n.1097_1098del
ENST00000683605.1:n.442_443del
ENST00000684037.1:c.947_948del	ENSP00000508245.1:p.Tyr316Ter
ENST00000684061.1:n.1081_1082del
ENST00000684179.1:n.916_917del
ENST00000527805.6:c.947_948del	ENSP00000435747.2:p.Tyr316Ter
ENST00000675595.1:c.782_783del	ENSP00000502563.1:p.Tyr261Ter
ENST00000675843.1:c.947_948del MANE Select	ENSP00000501606.1:p.Tyr316Ter
ENST00000278616.8:c.947_948del	ENSP00000278616.4:p.Tyr316Ter
ENST00000452508.6:c.947_948del	ENSP00000388058.2:p.Tyr316Ter
ENST00000527805.5:c.947_948del	ENSP00000435747.1:p.Tyr316Ter
NM_000051.3:c.947_948del , LRG_135t1:c.947_948del	NP_000042.3:p.Tyr316Ter
XM_005271561.3:c.947_948del	XP_005271618.2:p.Tyr316Ter
XM_005271562.3:c.947_948del	XP_005271619.2:p.Tyr316Ter
XM_006718843.2:c.947_948del	XP_006718906.1:p.Tyr316Ter
XM_011542840.1:c.947_948del	XP_011541142.1:p.Tyr316Ter
XM_011542841.1:c.947_948del	XP_011541143.1:p.Tyr316Ter
XM_011542842.1:c.782_783del	XP_011541144.1:p.Tyr261Ter
XM_011542843.1:c.947_948del	XP_011541145.1:p.Tyr316Ter
XM_011542844.1:c.-98_-97del	XP_011541146.1:n.-98_-97del
XM_011542846.1:c.947_948del	XP_011541148.1:p.Tyr316Ter
NM_001351834.1:c.947_948del	NP_001338763.1:p.Tyr316Ter
XM_005271562.5:c.947_948del	XP_005271619.2:p.Tyr316Ter
XM_006718843.4:c.947_948del	XP_006718906.1:p.Tyr316Ter
XM_011542840.3:c.947_948del	XP_011541142.1:p.Tyr316Ter
XM_011542842.3:c.782_783del	XP_011541144.1:p.Tyr261Ter
XM_011542843.2:c.947_948del	XP_011541145.1:p.Tyr316Ter
XM_011542844.3:c.-98_-97del	XP_011541146.1:n.-98_-97del
XM_017017789.2:c.947_948del	XP_016873278.1:p.Tyr316Ter
XM_017017790.2:c.947_948del	XP_016873279.1:p.Tyr316Ter
XM_017017791.1:c.947_948del	XP_016873280.1:p.Tyr316Ter
XM_017017792.2:c.947_948del	XP_016873281.1:p.Tyr316Ter
XR_002957150.1:n.1680_1681del
NM_001351834.2:c.947_948del	NP_001338763.1:p.Tyr316Ter
NM_000051.4:c.947_948del MANE Select	NP_000042.3:p.Tyr316Ter