Canonical Allele Identifier: CA601720748

Gene: ATM

Linked Data

• dbSNP Id: rs1403279604
• gnomAD v2: 11-108163996-ATTAT-A
• gnomAD v3: 11-108293269-ATTAT-A
• gnomAD v4: 11-108293269-ATTAT-A
• MyVariant Identifiers: chr11:g.108163997_108164000del (hg19) ; chr11:g.108293270_108293273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108293272_108293275del , CM000673.2:g.108293272_108293275del	GRCh38
NC_000011.9:g.108163999_108164002del , CM000673.1:g.108163999_108164002del	GRCh37
NC_000011.8:g.107669209_107669212del	NCBI36
NG_009830.1:g.75441_75444del , LRG_135:g.75441_75444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4612-41_4612-38del	ENSP00000388058.2:n.4612-41_4612-38del
ENST00000713593.1:c.*4083-41_*4083-38del	ENSP00000518889.1:n.*4083-41_*4083-38del
ENST00000278616.9:c.4612-41_4612-38del	ENSP00000278616.4:n.4612-41_4612-38del
ENST00000683174.1:n.4762-41_4762-38del
ENST00000527805.6:c.4611+479_4611+482del	ENSP00000435747.2:n.4611+479_4611+482del
ENST00000675595.1:c.4447-41_4447-38del	ENSP00000502563.1:n.4447-41_4447-38del
ENST00000675843.1:c.4612-41_4612-38del MANE Select	ENSP00000501606.1:n.4612-41_4612-38del
ENST00000278616.8:c.4612-41_4612-38del	ENSP00000278616.4:n.4612-41_4612-38del
ENST00000452508.6:c.4612-41_4612-38del	ENSP00000388058.2:n.4612-41_4612-38del
ENST00000524792.5:n.827-41_827-38del
ENST00000531525.2:c.444-1655_444-1652del	ENSP00000434327.2:n.444-1655_444-1652del
NM_000051.3:c.4612-41_4612-38del , LRG_135t1:c.4612-41_4612-38del	NP_000042.3:n.4612-41_4612-38del
XM_005271561.3:c.4612-41_4612-38del	XP_005271618.2:n.4612-41_4612-38del
XM_005271562.3:c.4612-41_4612-38del	XP_005271619.2:n.4612-41_4612-38del
XM_006718843.2:c.4612-41_4612-38del	XP_006718906.1:n.4612-41_4612-38del
XM_006718845.1:c.568-41_568-38del	XP_006718908.1:n.568-41_568-38del
XM_011542840.1:c.4612-41_4612-38del	XP_011541142.1:n.4612-41_4612-38del
XM_011542841.1:c.4612-41_4612-38del	XP_011541143.1:n.4612-41_4612-38del
XM_011542842.1:c.4447-41_4447-38del	XP_011541144.1:n.4447-41_4447-38del
XM_011542843.1:c.4612-41_4612-38del	XP_011541145.1:n.4612-41_4612-38del
XM_011542844.1:c.3568-41_3568-38del	XP_011541146.1:n.3568-41_3568-38del
XM_011542845.1:c.3304-41_3304-38del	XP_011541147.1:n.3304-41_3304-38del
XM_011542846.1:c.4612-41_4612-38del	XP_011541148.1:n.4612-41_4612-38del
NM_001351834.1:c.4612-41_4612-38del	NP_001338763.1:n.4612-41_4612-38del
XM_005271562.5:c.4612-41_4612-38del	XP_005271619.2:n.4612-41_4612-38del
XM_006718843.4:c.4612-41_4612-38del	XP_006718906.1:n.4612-41_4612-38del
XM_006718845.2:c.568-41_568-38del	XP_006718908.1:n.568-41_568-38del
XM_011542840.3:c.4612-41_4612-38del	XP_011541142.1:n.4612-41_4612-38del
XM_011542842.3:c.4447-41_4447-38del	XP_011541144.1:n.4447-41_4447-38del
XM_011542843.2:c.4612-41_4612-38del	XP_011541145.1:n.4612-41_4612-38del
XM_011542844.3:c.3568-41_3568-38del	XP_011541146.1:n.3568-41_3568-38del
XM_011542845.2:c.3304-41_3304-38del	XP_011541147.1:n.3304-41_3304-38del
XM_017017789.2:c.4612-41_4612-38del	XP_016873278.1:n.4612-41_4612-38del
XM_017017790.2:c.4612-41_4612-38del	XP_016873279.1:n.4612-41_4612-38del
XM_017017791.1:c.4612-41_4612-38del	XP_016873280.1:n.4612-41_4612-38del
XM_017017792.2:c.4612-41_4612-38del	XP_016873281.1:n.4612-41_4612-38del
XR_002957150.1:n.5345-41_5345-38del
NM_001351834.2:c.4612-41_4612-38del	NP_001338763.1:n.4612-41_4612-38del
NM_000051.4:c.4612-41_4612-38del MANE Select	NP_000042.3:n.4612-41_4612-38del