Canonical Allele Identifier: CA2615844013

Gene: ATM

Linked Data

• gnomAD v4: 11-108253746-T-TAAACCAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253746_108253747insAAACCAAG , CM000673.2:g.108253746_108253747insAAACCAAG	GRCh38
NC_000011.9:g.108124473_108124474insAAACCAAG , CM000673.1:g.108124473_108124474insAAACCAAG	GRCh37
NC_000011.8:g.107629683_107629684insAAACCAAG	NCBI36
NG_009830.1:g.35915_35916insAAACCAAG , LRG_135:g.35915_35916insAAACCAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.1899-68_1899-67insAAACCAAG	ENSP00000388058.2:n.1899-68_1899-67insAAA...
ENST00000713593.1:c.*1370-68_*1370-67insAAACCAAG	ENSP00000518889.1:n.*1370-68_*1370-67insA...
ENST00000278616.9:c.1899-68_1899-67insAAACCAAG	ENSP00000278616.4:n.1899-68_1899-67insAAA...
ENST00000682516.1:n.2033-68_2033-67insAAACCAAG
ENST00000683174.1:n.2049-68_2049-67insAAACCAAG
ENST00000683605.1:n.1394-68_1394-67insAAACCAAG
ENST00000684037.1:c.*834-68_*834-67insAAACCAAG	ENSP00000508245.1:n.*834-68_*834-67insAAA...
ENST00000684061.1:n.2033-68_2033-67insAAACCAAG
ENST00000527805.6:c.1899-68_1899-67insAAACCAAG	ENSP00000435747.2:n.1899-68_1899-67insAAA...
ENST00000675595.1:c.1734-68_1734-67insAAACCAAG	ENSP00000502563.1:n.1734-68_1734-67insAAA...
ENST00000675843.1:c.1899-68_1899-67insAAACCAAG MANE Select	ENSP00000501606.1:n.1899-68_1899-67insAAA...
ENST00000278616.8:c.1899-68_1899-67insAAACCAAG	ENSP00000278616.4:n.1899-68_1899-67insAAA...
ENST00000452508.6:c.1899-68_1899-67insAAACCAAG	ENSP00000388058.2:n.1899-68_1899-67insAAA...
ENST00000525012.5:n.93-85_93-84insAAACCAAG
ENST00000527805.5:c.1899-68_1899-67insAAACCAAG	ENSP00000435747.1:n.1899-68_1899-67insAAA...
ENST00000533526.1:n.93-109_93-108insAAACCAAG
NM_000051.3:c.1899-68_1899-67insAAACCAAG , LRG_135t1:c.1899-68_1899-67insAAACCAAG	NP_000042.3:n.1899-68_1899-67insAAACCAAG
XM_005271561.3:c.1899-68_1899-67insAAACCAAG	XP_005271618.2:n.1899-68_1899-67insAAACCA...
XM_005271562.3:c.1899-68_1899-67insAAACCAAG	XP_005271619.2:n.1899-68_1899-67insAAACCA...
XM_006718843.2:c.1899-68_1899-67insAAACCAAG	XP_006718906.1:n.1899-68_1899-67insAAACCA...
XM_011542840.1:c.1899-68_1899-67insAAACCAAG	XP_011541142.1:n.1899-68_1899-67insAAACCA...
XM_011542841.1:c.1899-68_1899-67insAAACCAAG	XP_011541143.1:n.1899-68_1899-67insAAACCA...
XM_011542842.1:c.1734-68_1734-67insAAACCAAG	XP_011541144.1:n.1734-68_1734-67insAAACCA...
XM_011542843.1:c.1899-68_1899-67insAAACCAAG	XP_011541145.1:n.1899-68_1899-67insAAACCA...
XM_011542844.1:c.855-68_855-67insAAACCAAG	XP_011541146.1:n.855-68_855-67insAAACCAAG...
XM_011542845.1:c.591-68_591-67insAAACCAAG	XP_011541147.1:n.591-68_591-67insAAACCAAG...
XM_011542846.1:c.1899-68_1899-67insAAACCAAG	XP_011541148.1:n.1899-68_1899-67insAAACCA...
NM_001351834.1:c.1899-68_1899-67insAAACCAAG	NP_001338763.1:n.1899-68_1899-67insAAACCA...
XM_005271562.5:c.1899-68_1899-67insAAACCAAG	XP_005271619.2:n.1899-68_1899-67insAAACCA...
XM_006718843.4:c.1899-68_1899-67insAAACCAAG	XP_006718906.1:n.1899-68_1899-67insAAACCA...
XM_011542840.3:c.1899-68_1899-67insAAACCAAG	XP_011541142.1:n.1899-68_1899-67insAAACCA...
XM_011542842.3:c.1734-68_1734-67insAAACCAAG	XP_011541144.1:n.1734-68_1734-67insAAACCA...
XM_011542843.2:c.1899-68_1899-67insAAACCAAG	XP_011541145.1:n.1899-68_1899-67insAAACCA...
XM_011542844.3:c.855-68_855-67insAAACCAAG	XP_011541146.1:n.855-68_855-67insAAACCAAG...
XM_011542845.2:c.591-68_591-67insAAACCAAG	XP_011541147.1:n.591-68_591-67insAAACCAAG...
XM_017017789.2:c.1899-68_1899-67insAAACCAAG	XP_016873278.1:n.1899-68_1899-67insAAACCA...
XM_017017790.2:c.1899-68_1899-67insAAACCAAG	XP_016873279.1:n.1899-68_1899-67insAAACCA...
XM_017017791.1:c.1899-68_1899-67insAAACCAAG	XP_016873280.1:n.1899-68_1899-67insAAACCA...
XM_017017792.2:c.1899-68_1899-67insAAACCAAG	XP_016873281.1:n.1899-68_1899-67insAAACCA...
XR_002957150.1:n.2632-68_2632-67insAAACCAAG
NM_001351834.2:c.1899-68_1899-67insAAACCAAG	NP_001338763.1:n.1899-68_1899-67insAAACCA...
NM_000051.4:c.1899-68_1899-67insAAACCAAG MANE Select	NP_000042.3:n.1899-68_1899-67insAAACCAAG