Canonical Allele Identifier: CA913187694

Gene: ATM

Linked Data

• ClinVar Variation Id: 629082
• ClinVar RCV Id: RCV000773771
• dbSNP Id: rs1565428327

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108272717_108272718insAA , CM000673.2:g.108272717_108272718insAA	GRCh38
NC_000011.9:g.108143444_108143445insAA , CM000673.1:g.108143444_108143445insAA	GRCh37
NC_000011.8:g.107648654_107648655insAA	NCBI36
NG_009830.1:g.54886_54887insAA , LRG_135:g.54886_54887insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3154-5_3154-4insAA	ENSP00000388058.2:n.3154-5_3154-4insAA
ENST00000713593.1:c.*2625-5_*2625-4insAA	ENSP00000518889.1:n.*2625-5_*2625-4insAA
ENST00000278616.9:c.3154-5_3154-4insAA	ENSP00000278616.4:n.3154-5_3154-4insAA
ENST00000683174.1:n.3304-5_3304-4insAA
ENST00000527805.6:c.3154-5_3154-4insAA	ENSP00000435747.2:n.3154-5_3154-4insAA
ENST00000675595.1:c.2989-5_2989-4insAA	ENSP00000502563.1:n.2989-5_2989-4insAA
ENST00000675843.1:c.3154-5_3154-4insAA MANE Select	ENSP00000501606.1:n.3154-5_3154-4insAA
ENST00000278616.8:c.3154-5_3154-4insAA	ENSP00000278616.4:n.3154-5_3154-4insAA
ENST00000452508.6:c.3154-5_3154-4insAA	ENSP00000388058.2:n.3154-5_3154-4insAA
ENST00000527805.5:c.3154-5_3154-4insAA	ENSP00000435747.1:n.3154-5_3154-4insAA
NM_000051.3:c.3154-5_3154-4insAA , LRG_135t1:c.3154-5_3154-4insAA	NP_000042.3:n.3154-5_3154-4insAA
XM_005271561.3:c.3154-5_3154-4insAA	XP_005271618.2:n.3154-5_3154-4insAA
XM_005271562.3:c.3154-5_3154-4insAA	XP_005271619.2:n.3154-5_3154-4insAA
XM_006718843.2:c.3154-5_3154-4insAA	XP_006718906.1:n.3154-5_3154-4insAA
XM_011542840.1:c.3154-5_3154-4insAA	XP_011541142.1:n.3154-5_3154-4insAA
XM_011542841.1:c.3154-5_3154-4insAA	XP_011541143.1:n.3154-5_3154-4insAA
XM_011542842.1:c.2989-5_2989-4insAA	XP_011541144.1:n.2989-5_2989-4insAA
XM_011542843.1:c.3154-5_3154-4insAA	XP_011541145.1:n.3154-5_3154-4insAA
XM_011542844.1:c.2110-5_2110-4insAA	XP_011541146.1:n.2110-5_2110-4insAA
XM_011542845.1:c.1846-5_1846-4insAA	XP_011541147.1:n.1846-5_1846-4insAA
XM_011542846.1:c.3154-5_3154-4insAA	XP_011541148.1:n.3154-5_3154-4insAA
NM_001351834.1:c.3154-5_3154-4insAA	NP_001338763.1:n.3154-5_3154-4insAA
XM_005271562.5:c.3154-5_3154-4insAA	XP_005271619.2:n.3154-5_3154-4insAA
XM_006718843.4:c.3154-5_3154-4insAA	XP_006718906.1:n.3154-5_3154-4insAA
XM_011542840.3:c.3154-5_3154-4insAA	XP_011541142.1:n.3154-5_3154-4insAA
XM_011542842.3:c.2989-5_2989-4insAA	XP_011541144.1:n.2989-5_2989-4insAA
XM_011542843.2:c.3154-5_3154-4insAA	XP_011541145.1:n.3154-5_3154-4insAA
XM_011542844.3:c.2110-5_2110-4insAA	XP_011541146.1:n.2110-5_2110-4insAA
XM_011542845.2:c.1846-5_1846-4insAA	XP_011541147.1:n.1846-5_1846-4insAA
XM_017017789.2:c.3154-5_3154-4insAA	XP_016873278.1:n.3154-5_3154-4insAA
XM_017017790.2:c.3154-5_3154-4insAA	XP_016873279.1:n.3154-5_3154-4insAA
XM_017017791.1:c.3154-5_3154-4insAA	XP_016873280.1:n.3154-5_3154-4insAA
XM_017017792.2:c.3154-5_3154-4insAA	XP_016873281.1:n.3154-5_3154-4insAA
XR_002957150.1:n.3887-5_3887-4insAA
NM_001351834.2:c.3154-5_3154-4insAA	NP_001338763.1:n.3154-5_3154-4insAA
NM_000051.4:c.3154-5_3154-4insAA MANE Select	NP_000042.3:n.3154-5_3154-4insAA