Canonical Allele Identifier: CA2615856959

Gene: ATM

Linked Data

• gnomAD v4: 11-108244020-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244021_108244022insAAA , CM000673.2:g.108244021_108244022insAAA	GRCh38
NC_000011.9:g.108114748_108114749insAAA , CM000673.1:g.108114748_108114749insAAA	GRCh37
NC_000011.8:g.107619958_107619959insAAA	NCBI36
NG_009830.1:g.26190_26191insAAA , LRG_135:g.26190_26191insAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.565_566insAAA	ENSP00000388058.2:p.Ala188_Arg189insLys
ENST00000713593.1:c.*36_*37insAAA	ENSP00000518889.1:n.*36_*37insAAA
ENST00000278616.9:c.565_566insAAA	ENSP00000278616.4:p.Ala188_Arg189insLys
ENST00000682430.1:n.664_665insAAA
ENST00000682516.1:n.699_700insAAA
ENST00000682956.1:n.699_700insAAA
ENST00000683100.1:n.2243_2244insAAA
ENST00000683174.1:n.715_716insAAA
ENST00000683605.1:n.60_61insAAA
ENST00000684037.1:c.565_566insAAA	ENSP00000508245.1:p.Ala188_Arg189insLys
ENST00000684061.1:n.699_700insAAA
ENST00000684179.1:n.534_535insAAA
ENST00000527805.6:c.565_566insAAA	ENSP00000435747.2:p.Ala188_Arg189insLys
ENST00000675595.1:c.400_401insAAA	ENSP00000502563.1:p.Ala133_Arg134insLys
ENST00000675843.1:c.565_566insAAA MANE Select	ENSP00000501606.1:p.Ala188_Arg189insLys
ENST00000278616.8:c.565_566insAAA	ENSP00000278616.4:p.Ala188_Arg189insLys
ENST00000452508.6:c.565_566insAAA	ENSP00000388058.2:p.Ala188_Arg189insLys
ENST00000527805.5:c.565_566insAAA	ENSP00000435747.1:p.Ala188_Arg189insLys
ENST00000527891.5:c.400_401insAAA	ENSP00000433955.1:p.Ala133_Arg134insLys
NM_000051.3:c.565_566insAAA , LRG_135t1:c.565_566insAAA	NP_000042.3:p.Ala188_Arg189insLys
XM_005271561.3:c.565_566insAAA	XP_005271618.2:p.Ala188_Arg189insLys
XM_005271562.3:c.565_566insAAA	XP_005271619.2:p.Ala188_Arg189insLys
XM_006718843.2:c.565_566insAAA	XP_006718906.1:p.Ala188_Arg189insLys
XM_011542840.1:c.565_566insAAA	XP_011541142.1:p.Ala188_Arg189insLys
XM_011542841.1:c.565_566insAAA	XP_011541143.1:p.Ala188_Arg189insLys
XM_011542842.1:c.400_401insAAA	XP_011541144.1:p.Ala133_Arg134insLys
XM_011542843.1:c.565_566insAAA	XP_011541145.1:p.Ala188_Arg189insLys
XM_011542844.1:c.-480_-479insAAA	XP_011541146.1:n.-480_-479insAAA
XM_011542846.1:c.565_566insAAA	XP_011541148.1:p.Ala188_Arg189insLys
NM_001351834.1:c.565_566insAAA	NP_001338763.1:p.Ala188_Arg189insLys
XM_005271562.5:c.565_566insAAA	XP_005271619.2:p.Ala188_Arg189insLys
XM_006718843.4:c.565_566insAAA	XP_006718906.1:p.Ala188_Arg189insLys
XM_011542840.3:c.565_566insAAA	XP_011541142.1:p.Ala188_Arg189insLys
XM_011542842.3:c.400_401insAAA	XP_011541144.1:p.Ala133_Arg134insLys
XM_011542843.2:c.565_566insAAA	XP_011541145.1:p.Ala188_Arg189insLys
XM_011542844.3:c.-480_-479insAAA	XP_011541146.1:n.-480_-479insAAA
XM_017017789.2:c.565_566insAAA	XP_016873278.1:p.Ala188_Arg189insLys
XM_017017790.2:c.565_566insAAA	XP_016873279.1:p.Ala188_Arg189insLys
XM_017017791.1:c.565_566insAAA	XP_016873280.1:p.Ala188_Arg189insLys
XM_017017792.2:c.565_566insAAA	XP_016873281.1:p.Ala188_Arg189insLys
XR_002957150.1:n.1298_1299insAAA
NM_001351834.2:c.565_566insAAA	NP_001338763.1:p.Ala188_Arg189insLys
NM_000051.4:c.565_566insAAA MANE Select	NP_000042.3:p.Ala188_Arg189insLys