Canonical Allele Identifier: CA645597673

Gene: ATM

Linked Data

• ClinVar Variation Id: 3148562
• ClinVar RCV Id: RCV004442456
• COSMIC: COSM1235448

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247062_108247063insA , CM000673.2:g.108247062_108247063insA	GRCh38
NC_000011.9:g.108117789_108117790insA , CM000673.1:g.108117789_108117790insA	GRCh37
NC_000011.8:g.107622999_107623000insA	NCBI36
NG_009830.1:g.29231_29232insA , LRG_135:g.29231_29232insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1000_1001insA	ENSP00000388058.2:p.Ser334TyrfsTer5
ENST00000713593.1:c.*471_*472insA	ENSP00000518889.1:n.*471_*472insA
ENST00000278616.9:c.1000_1001insA	ENSP00000278616.4:p.Ser334TyrfsTer5
ENST00000682516.1:n.1134_1135insA
ENST00000682956.1:n.1134_1135insA
ENST00000683100.1:n.3347_3348insA
ENST00000683174.1:n.1150_1151insA
ENST00000683605.1:n.495_496insA
ENST00000684037.1:c.1000_1001insA	ENSP00000508245.1:p.Ser334TyrfsTer5
ENST00000684061.1:n.1134_1135insA
ENST00000684179.1:n.969_970insA
ENST00000527805.6:c.1000_1001insA	ENSP00000435747.2:p.Ser334TyrfsTer5
ENST00000675595.1:c.835_836insA	ENSP00000502563.1:p.Ser279TyrfsTer5
ENST00000675843.1:c.1000_1001insA MANE Select	ENSP00000501606.1:p.Ser334TyrfsTer5
ENST00000278616.8:c.1000_1001insA	ENSP00000278616.4:p.Ser334TyrfsTer5
ENST00000452508.6:c.1000_1001insA	ENSP00000388058.2:p.Ser334TyrfsTer5
ENST00000527805.5:c.1000_1001insA	ENSP00000435747.1:p.Ser334TyrfsTer5
NM_000051.3:c.1000_1001insA , LRG_135t1:c.1000_1001insA	NP_000042.3:p.Ser334TyrfsTer5
XM_005271561.3:c.1000_1001insA	XP_005271618.2:p.Ser334TyrfsTer5
XM_005271562.3:c.1000_1001insA	XP_005271619.2:p.Ser334TyrfsTer5
XM_006718843.2:c.1000_1001insA	XP_006718906.1:p.Ser334TyrfsTer5
XM_011542840.1:c.1000_1001insA	XP_011541142.1:p.Ser334TyrfsTer5
XM_011542841.1:c.1000_1001insA	XP_011541143.1:p.Ser334TyrfsTer5
XM_011542842.1:c.835_836insA	XP_011541144.1:p.Ser279TyrfsTer5
XM_011542843.1:c.1000_1001insA	XP_011541145.1:p.Ser334TyrfsTer5
XM_011542844.1:c.-45_-44insA	XP_011541146.1:n.-45_-44insA
XM_011542845.1:c.-139_-138insA	XP_011541147.1:n.-139_-138insA
XM_011542846.1:c.1000_1001insA	XP_011541148.1:p.Ser334TyrfsTer5
NM_001351834.1:c.1000_1001insA	NP_001338763.1:p.Ser334TyrfsTer5
XM_005271562.5:c.1000_1001insA	XP_005271619.2:p.Ser334TyrfsTer5
XM_006718843.4:c.1000_1001insA	XP_006718906.1:p.Ser334TyrfsTer5
XM_011542840.3:c.1000_1001insA	XP_011541142.1:p.Ser334TyrfsTer5
XM_011542842.3:c.835_836insA	XP_011541144.1:p.Ser279TyrfsTer5
XM_011542843.2:c.1000_1001insA	XP_011541145.1:p.Ser334TyrfsTer5
XM_011542844.3:c.-45_-44insA	XP_011541146.1:n.-45_-44insA
XM_011542845.2:c.-139_-138insA	XP_011541147.1:n.-139_-138insA
XM_017017789.2:c.1000_1001insA	XP_016873278.1:p.Ser334TyrfsTer5
XM_017017790.2:c.1000_1001insA	XP_016873279.1:p.Ser334TyrfsTer5
XM_017017791.1:c.1000_1001insA	XP_016873280.1:p.Ser334TyrfsTer5
XM_017017792.2:c.1000_1001insA	XP_016873281.1:p.Ser334TyrfsTer5
XR_002957150.1:n.1733_1734insA
NM_001351834.2:c.1000_1001insA	NP_001338763.1:p.Ser334TyrfsTer5
NM_000051.4:c.1000_1001insA MANE Select	NP_000042.3:p.Ser334TyrfsTer5