Canonical Allele Identifier: CA913188410

Gene: ATM

Linked Data

• ClinVar Variation Id: 921140
• ClinVar RCV Id: RCV001180394 ; RCV001875986
• dbSNP Id: rs2080163350

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251841_108251842delinsTT , CM000673.2:g.108251841_108251842delinsTT	GRCh38
NC_000011.9:g.108122568_108122569delinsTT , CM000673.1:g.108122568_108122569delinsTT	GRCh37
NC_000011.8:g.107627778_107627779delinsTT	NCBI36
NG_009830.1:g.34010_34011delinsTT , LRG_135:g.34010_34011delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.1612_1613delinsTT	ENSP00000388058.2:p.Ala538Leu
ENST00000713593.1:c.*1083_*1084delinsTT	ENSP00000518889.1:n.*1083_*1084delinsTT
ENST00000278616.9:c.1612_1613delinsTT	ENSP00000278616.4:p.Ala538Leu
ENST00000682516.1:n.1746_1747delinsTT
ENST00000683174.1:n.1762_1763delinsTT
ENST00000683605.1:n.1107_1108delinsTT
ENST00000684037.1:c.*547_*548delinsTT	ENSP00000508245.1:n.*547_*548delinsTT
ENST00000684061.1:n.1746_1747delinsTT
ENST00000527805.6:c.1612_1613delinsTT	ENSP00000435747.2:p.Ala538Leu
ENST00000675595.1:c.1447_1448delinsTT	ENSP00000502563.1:p.Ala483Leu
ENST00000675843.1:c.1612_1613delinsTT MANE Select	ENSP00000501606.1:p.Ala538Leu
ENST00000278616.8:c.1612_1613delinsTT	ENSP00000278616.4:p.Ala538Leu
ENST00000452508.6:c.1612_1613delinsTT	ENSP00000388058.2:p.Ala538Leu
ENST00000527805.5:c.1612_1613delinsTT	ENSP00000435747.1:p.Ala538Leu
NM_000051.3:c.1612_1613delinsTT , LRG_135t1:c.1612_1613delinsTT	NP_000042.3:p.Ala538Leu
XM_005271561.3:c.1612_1613delinsTT	XP_005271618.2:p.Ala538Leu
XM_005271562.3:c.1612_1613delinsTT	XP_005271619.2:p.Ala538Leu
XM_006718843.2:c.1612_1613delinsTT	XP_006718906.1:p.Ala538Leu
XM_011542840.1:c.1612_1613delinsTT	XP_011541142.1:p.Ala538Leu
XM_011542841.1:c.1612_1613delinsTT	XP_011541143.1:p.Ala538Leu
XM_011542842.1:c.1447_1448delinsTT	XP_011541144.1:p.Ala483Leu
XM_011542843.1:c.1612_1613delinsTT	XP_011541145.1:p.Ala538Leu
XM_011542844.1:c.568_569delinsTT	XP_011541146.1:p.Ala190Leu
XM_011542845.1:c.304_305delinsTT	XP_011541147.1:p.Ala102Leu
XM_011542846.1:c.1612_1613delinsTT	XP_011541148.1:p.Ala538Leu
NM_001351834.1:c.1612_1613delinsTT	NP_001338763.1:p.Ala538Leu
XM_005271562.5:c.1612_1613delinsTT	XP_005271619.2:p.Ala538Leu
XM_006718843.4:c.1612_1613delinsTT	XP_006718906.1:p.Ala538Leu
XM_011542840.3:c.1612_1613delinsTT	XP_011541142.1:p.Ala538Leu
XM_011542842.3:c.1447_1448delinsTT	XP_011541144.1:p.Ala483Leu
XM_011542843.2:c.1612_1613delinsTT	XP_011541145.1:p.Ala538Leu
XM_011542844.3:c.568_569delinsTT	XP_011541146.1:p.Ala190Leu
XM_011542845.2:c.304_305delinsTT	XP_011541147.1:p.Ala102Leu
XM_017017789.2:c.1612_1613delinsTT	XP_016873278.1:p.Ala538Leu
XM_017017790.2:c.1612_1613delinsTT	XP_016873279.1:p.Ala538Leu
XM_017017791.1:c.1612_1613delinsTT	XP_016873280.1:p.Ala538Leu
XM_017017792.2:c.1612_1613delinsTT	XP_016873281.1:p.Ala538Leu
XR_002957150.1:n.2345_2346delinsTT
NM_001351834.2:c.1612_1613delinsTT	NP_001338763.1:p.Ala538Leu
NM_000051.4:c.1612_1613delinsTT MANE Select	NP_000042.3:p.Ala538Leu