Canonical Allele Identifier: CA1998795432

Gene: ATM

Linked Data

• dbSNP Id: rs2082561775
• gnomAD v4: 11-108287652-TGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287654_108287656del , CM000673.2:g.108287654_108287656del	GRCh38
NC_000011.9:g.108158381_108158383del , CM000673.1:g.108158381_108158383del	GRCh37
NC_000011.8:g.107663591_107663593del	NCBI36
NG_009830.1:g.69823_69825del , LRG_135:g.69823_69825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4048_4050del	ENSP00000388058.2:p.Thr1350del
ENST00000713593.1:c.*3519_*3521del	ENSP00000518889.1:n.*3519_*3521del
ENST00000278616.9:c.4048_4050del	ENSP00000278616.4:p.Thr1350del
ENST00000533733.6:n.1311_1313del
ENST00000683174.1:n.4198_4200del
ENST00000527805.6:c.4048_4050del	ENSP00000435747.2:p.Thr1350del
ENST00000675595.1:c.3883_3885del	ENSP00000502563.1:p.Thr1295del
ENST00000675843.1:c.4048_4050del MANE Select	ENSP00000501606.1:p.Thr1350del
ENST00000278616.8:c.4048_4050del	ENSP00000278616.4:p.Thr1350del
ENST00000452508.6:c.4048_4050del	ENSP00000388058.2:p.Thr1350del
ENST00000524792.5:n.263_265del
ENST00000527805.5:c.4048_4050del	ENSP00000435747.1:p.Thr1350del
ENST00000531525.2:c.55_57del	ENSP00000434327.2:p.Thr19del
ENST00000533733.5:n.477_479del
NM_000051.3:c.4048_4050del , LRG_135t1:c.4048_4050del	NP_000042.3:p.Thr1350del
XM_005271561.3:c.4048_4050del	XP_005271618.2:p.Thr1350del
XM_005271562.3:c.4048_4050del	XP_005271619.2:p.Thr1350del
XM_006718843.2:c.4048_4050del	XP_006718906.1:p.Thr1350del
XM_006718845.1:c.4_6del	XP_006718908.1:p.Thr2del
XM_011542840.1:c.4048_4050del	XP_011541142.1:p.Thr1350del
XM_011542841.1:c.4048_4050del	XP_011541143.1:p.Thr1350del
XM_011542842.1:c.3883_3885del	XP_011541144.1:p.Thr1295del
XM_011542843.1:c.4048_4050del	XP_011541145.1:p.Thr1350del
XM_011542844.1:c.3004_3006del	XP_011541146.1:p.Thr1002del
XM_011542845.1:c.2740_2742del	XP_011541147.1:p.Thr914del
XM_011542846.1:c.4048_4050del	XP_011541148.1:p.Thr1350del
NM_001351834.1:c.4048_4050del	NP_001338763.1:p.Thr1350del
XM_005271562.5:c.4048_4050del	XP_005271619.2:p.Thr1350del
XM_006718843.4:c.4048_4050del	XP_006718906.1:p.Thr1350del
XM_006718845.2:c.4_6del	XP_006718908.1:p.Thr2del
XM_011542840.3:c.4048_4050del	XP_011541142.1:p.Thr1350del
XM_011542842.3:c.3883_3885del	XP_011541144.1:p.Thr1295del
XM_011542843.2:c.4048_4050del	XP_011541145.1:p.Thr1350del
XM_011542844.3:c.3004_3006del	XP_011541146.1:p.Thr1002del
XM_011542845.2:c.2740_2742del	XP_011541147.1:p.Thr914del
XM_017017789.2:c.4048_4050del	XP_016873278.1:p.Thr1350del
XM_017017790.2:c.4048_4050del	XP_016873279.1:p.Thr1350del
XM_017017791.1:c.4048_4050del	XP_016873280.1:p.Thr1350del
XM_017017792.2:c.4048_4050del	XP_016873281.1:p.Thr1350del
XR_002957150.1:n.4781_4783del
NM_001351834.2:c.4048_4050del	NP_001338763.1:p.Thr1350del
NM_000051.4:c.4048_4050del MANE Select	NP_000042.3:p.Thr1350del