Canonical Allele Identifier: CA2615856663

Gene: ATM

Linked Data

• gnomAD v4: 11-108243934-A-ATTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243944_108243949dup , CM000673.2:g.108243944_108243949dup	GRCh38
NC_000011.9:g.108114671_108114676dup , CM000673.1:g.108114671_108114676dup	GRCh37
NC_000011.8:g.107619881_107619886dup	NCBI36
NG_009830.1:g.26113_26118dup , LRG_135:g.26113_26118dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.497-9_497-4dup	ENSP00000388058.2:n.497-9_497-4dup
ENST00000713593.1:c.497-31_497-26dup	ENSP00000518889.1:n.497-31_497-26dup
ENST00000278616.9:c.497-9_497-4dup	ENSP00000278616.4:n.497-9_497-4dup
ENST00000682430.1:n.596-9_596-4dup
ENST00000682516.1:n.631-9_631-4dup
ENST00000682956.1:n.631-9_631-4dup
ENST00000683100.1:n.2166_2171dup
ENST00000683174.1:n.647-9_647-4dup
ENST00000684037.1:c.497-9_497-4dup	ENSP00000508245.1:n.497-9_497-4dup
ENST00000684061.1:n.631-9_631-4dup
ENST00000684179.1:n.466-9_466-4dup
ENST00000527805.6:c.497-9_497-4dup	ENSP00000435747.2:n.497-9_497-4dup
ENST00000675595.1:c.332-9_332-4dup	ENSP00000502563.1:n.332-9_332-4dup
ENST00000675843.1:c.497-9_497-4dup MANE Select	ENSP00000501606.1:n.497-9_497-4dup
ENST00000278616.8:c.497-9_497-4dup	ENSP00000278616.4:n.497-9_497-4dup
ENST00000452508.6:c.497-9_497-4dup	ENSP00000388058.2:n.497-9_497-4dup
ENST00000527805.5:c.497-9_497-4dup	ENSP00000435747.1:n.497-9_497-4dup
ENST00000527891.5:c.332-9_332-4dup	ENSP00000433955.1:n.332-9_332-4dup
NM_000051.3:c.497-9_497-4dup , LRG_135t1:c.497-9_497-4dup	NP_000042.3:n.497-9_497-4dup
XM_005271561.3:c.497-9_497-4dup	XP_005271618.2:n.497-9_497-4dup
XM_005271562.3:c.497-9_497-4dup	XP_005271619.2:n.497-9_497-4dup
XM_006718843.2:c.497-9_497-4dup	XP_006718906.1:n.497-9_497-4dup
XM_011542840.1:c.497-9_497-4dup	XP_011541142.1:n.497-9_497-4dup
XM_011542841.1:c.497-9_497-4dup	XP_011541143.1:n.497-9_497-4dup
XM_011542842.1:c.332-9_332-4dup	XP_011541144.1:n.332-9_332-4dup
XM_011542843.1:c.497-9_497-4dup	XP_011541145.1:n.497-9_497-4dup
XM_011542844.1:c.-526-31_-526-26dup	XP_011541146.1:n.-526-31_-526-26dup
XM_011542846.1:c.497-9_497-4dup	XP_011541148.1:n.497-9_497-4dup
NM_001351834.1:c.497-9_497-4dup	NP_001338763.1:n.497-9_497-4dup
XM_005271562.5:c.497-9_497-4dup	XP_005271619.2:n.497-9_497-4dup
XM_006718843.4:c.497-9_497-4dup	XP_006718906.1:n.497-9_497-4dup
XM_011542840.3:c.497-9_497-4dup	XP_011541142.1:n.497-9_497-4dup
XM_011542842.3:c.332-9_332-4dup	XP_011541144.1:n.332-9_332-4dup
XM_011542843.2:c.497-9_497-4dup	XP_011541145.1:n.497-9_497-4dup
XM_011542844.3:c.-526-31_-526-26dup	XP_011541146.1:n.-526-31_-526-26dup
XM_017017789.2:c.497-9_497-4dup	XP_016873278.1:n.497-9_497-4dup
XM_017017790.2:c.497-9_497-4dup	XP_016873279.1:n.497-9_497-4dup
XM_017017791.1:c.497-9_497-4dup	XP_016873280.1:n.497-9_497-4dup
XM_017017792.2:c.497-9_497-4dup	XP_016873281.1:n.497-9_497-4dup
XR_002957150.1:n.1230-9_1230-4dup
NM_001351834.2:c.497-9_497-4dup	NP_001338763.1:n.497-9_497-4dup
NM_000051.4:c.497-9_497-4dup MANE Select	NP_000042.3:n.497-9_497-4dup