Canonical Allele Identifier: CA1998763712

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244016_108244018delinsTGG , CM000673.2:g.108244016_108244018delinsTGG	GRCh38
NC_000011.9:g.108114743_108114745delinsTGG , CM000673.1:g.108114743_108114745delinsTGG	GRCh37
NC_000011.8:g.107619953_107619955delinsTGG	NCBI36
NG_009830.1:g.26185_26187delinsTGG , LRG_135:g.26185_26187delinsTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.560_562delinsTGG	ENSP00000388058.2:p.Val187=
ENST00000713593.1:c.*31_*33delinsTGG	ENSP00000518889.1:n.*31_*33delinsTGG
ENST00000278616.9:c.560_562delinsTGG	ENSP00000278616.4:p.Val187=
ENST00000682430.1:n.659_661delinsTGG
ENST00000682516.1:n.694_696delinsTGG
ENST00000682956.1:n.694_696delinsTGG
ENST00000683100.1:n.2238_2240delinsTGG
ENST00000683174.1:n.710_712delinsTGG
ENST00000683605.1:n.55_57delinsTGG
ENST00000684037.1:c.560_562delinsTGG	ENSP00000508245.1:p.Val187=
ENST00000684061.1:n.694_696delinsTGG
ENST00000684179.1:n.529_531delinsTGG
ENST00000527805.6:c.560_562delinsTGG	ENSP00000435747.2:p.Val187=
ENST00000675595.1:c.395_397delinsTGG	ENSP00000502563.1:p.Val132=
ENST00000675843.1:c.560_562delinsTGG MANE Select	ENSP00000501606.1:p.Val187=
ENST00000278616.8:c.560_562delinsTGG	ENSP00000278616.4:p.Val187=
ENST00000452508.6:c.560_562delinsTGG	ENSP00000388058.2:p.Val187=
ENST00000527805.5:c.560_562delinsTGG	ENSP00000435747.1:p.Val187=
ENST00000527891.5:c.395_397delinsTGG	ENSP00000433955.1:p.Val132=
NM_000051.3:c.560_562delinsTGG , LRG_135t1:c.560_562delinsTGG	NP_000042.3:p.Val187=
XM_005271561.3:c.560_562delinsTGG	XP_005271618.2:p.Val187=
XM_005271562.3:c.560_562delinsTGG	XP_005271619.2:p.Val187=
XM_006718843.2:c.560_562delinsTGG	XP_006718906.1:p.Val187=
XM_011542840.1:c.560_562delinsTGG	XP_011541142.1:p.Val187=
XM_011542841.1:c.560_562delinsTGG	XP_011541143.1:p.Val187=
XM_011542842.1:c.395_397delinsTGG	XP_011541144.1:p.Val132=
XM_011542843.1:c.560_562delinsTGG	XP_011541145.1:p.Val187=
XM_011542844.1:c.-485_-483delinsTGG	XP_011541146.1:n.-485_-483delinsTGG
XM_011542846.1:c.560_562delinsTGG	XP_011541148.1:p.Val187=
NM_001351834.1:c.560_562delinsTGG	NP_001338763.1:p.Val187=
XM_005271562.5:c.560_562delinsTGG	XP_005271619.2:p.Val187=
XM_006718843.4:c.560_562delinsTGG	XP_006718906.1:p.Val187=
XM_011542840.3:c.560_562delinsTGG	XP_011541142.1:p.Val187=
XM_011542842.3:c.395_397delinsTGG	XP_011541144.1:p.Val132=
XM_011542843.2:c.560_562delinsTGG	XP_011541145.1:p.Val187=
XM_011542844.3:c.-485_-483delinsTGG	XP_011541146.1:n.-485_-483delinsTGG
XM_017017789.2:c.560_562delinsTGG	XP_016873278.1:p.Val187=
XM_017017790.2:c.560_562delinsTGG	XP_016873279.1:p.Val187=
XM_017017791.1:c.560_562delinsTGG	XP_016873280.1:p.Val187=
XM_017017792.2:c.560_562delinsTGG	XP_016873281.1:p.Val187=
XR_002957150.1:n.1293_1295delinsTGG
NM_001351834.2:c.560_562delinsTGG	NP_001338763.1:p.Val187=
NM_000051.4:c.560_562delinsTGG MANE Select	NP_000042.3:p.Val187=