Canonical Allele Identifier: CA2580083290

Gene: ATM

Linked Data

• ClinVar Variation Id: 1727703
• ClinVar RCV Id: RCV002326043

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108272562_108272573delinsTAA , CM000673.2:g.108272562_108272573delinsTAA	GRCh38
NC_000011.9:g.108143289_108143300delinsTAA , CM000673.1:g.108143289_108143300delinsTAA	GRCh37
NC_000011.8:g.107648499_107648510delinsTAA	NCBI36
NG_009830.1:g.54731_54742delinsTAA , LRG_135:g.54731_54742delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3108_3119delinsTAA	ENSP00000388058.2:p.Ser1037_Met1040delinsLys
ENST00000713593.1:c.*2579_*2590delinsTAA	ENSP00000518889.1:n.*2579_*2590delinsTAA
ENST00000278616.9:c.3108_3119delinsTAA	ENSP00000278616.4:p.Ser1037_Met1040delinsLys
ENST00000683174.1:n.3258_3269delinsTAA
ENST00000527805.6:c.3108_3119delinsTAA	ENSP00000435747.2:p.Ser1037_Met1040delinsLys
ENST00000675595.1:c.2943_2954delinsTAA	ENSP00000502563.1:p.Ser982_Met985delinsLys
ENST00000675843.1:c.3108_3119delinsTAA MANE Select	ENSP00000501606.1:p.Ser1037_Met1040delinsLys
ENST00000278616.8:c.3108_3119delinsTAA	ENSP00000278616.4:p.Ser1037_Met1040delinsLys
ENST00000452508.6:c.3108_3119delinsTAA	ENSP00000388058.2:p.Ser1037_Met1040delinsLys
ENST00000527805.5:c.3108_3119delinsTAA	ENSP00000435747.1:p.Ser1037_Met1040delinsLys
NM_000051.3:c.3108_3119delinsTAA , LRG_135t1:c.3108_3119delinsTAA	NP_000042.3:p.Ser1037_Met1040delinsLys
XM_005271561.3:c.3108_3119delinsTAA	XP_005271618.2:p.Ser1037_Met1040delinsLys
XM_005271562.3:c.3108_3119delinsTAA	XP_005271619.2:p.Ser1037_Met1040delinsLys
XM_006718843.2:c.3108_3119delinsTAA	XP_006718906.1:p.Ser1037_Met1040delinsLys
XM_011542840.1:c.3108_3119delinsTAA	XP_011541142.1:p.Ser1037_Met1040delinsLys
XM_011542841.1:c.3108_3119delinsTAA	XP_011541143.1:p.Ser1037_Met1040delinsLys
XM_011542842.1:c.2943_2954delinsTAA	XP_011541144.1:p.Ser982_Met985delinsLys
XM_011542843.1:c.3108_3119delinsTAA	XP_011541145.1:p.Ser1037_Met1040delinsLys
XM_011542844.1:c.2064_2075delinsTAA	XP_011541146.1:p.Ser689_Met692delinsLys
XM_011542845.1:c.1800_1811delinsTAA	XP_011541147.1:p.Ser601_Met604delinsLys
XM_011542846.1:c.3108_3119delinsTAA	XP_011541148.1:p.Ser1037_Met1040delinsLys
NM_001351834.1:c.3108_3119delinsTAA	NP_001338763.1:p.Ser1037_Met1040delinsLys
XM_005271562.5:c.3108_3119delinsTAA	XP_005271619.2:p.Ser1037_Met1040delinsLys
XM_006718843.4:c.3108_3119delinsTAA	XP_006718906.1:p.Ser1037_Met1040delinsLys
XM_011542840.3:c.3108_3119delinsTAA	XP_011541142.1:p.Ser1037_Met1040delinsLys
XM_011542842.3:c.2943_2954delinsTAA	XP_011541144.1:p.Ser982_Met985delinsLys
XM_011542843.2:c.3108_3119delinsTAA	XP_011541145.1:p.Ser1037_Met1040delinsLys
XM_011542844.3:c.2064_2075delinsTAA	XP_011541146.1:p.Ser689_Met692delinsLys
XM_011542845.2:c.1800_1811delinsTAA	XP_011541147.1:p.Ser601_Met604delinsLys
XM_017017789.2:c.3108_3119delinsTAA	XP_016873278.1:p.Ser1037_Met1040delinsLys
XM_017017790.2:c.3108_3119delinsTAA	XP_016873279.1:p.Ser1037_Met1040delinsLys
XM_017017791.1:c.3108_3119delinsTAA	XP_016873280.1:p.Ser1037_Met1040delinsLys
XM_017017792.2:c.3108_3119delinsTAA	XP_016873281.1:p.Ser1037_Met1040delinsLys
XR_002957150.1:n.3841_3852delinsTAA
NM_001351834.2:c.3108_3119delinsTAA	NP_001338763.1:p.Ser1037_Met1040delinsLys
NM_000051.4:c.3108_3119delinsTAA MANE Select	NP_000042.3:p.Ser1037_Met1040delinsLys