Canonical Allele Identifier: CA382549953

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2136119479
• gnomAD v4: 11-108315862-G-A
• MyVariant Identifiers: chr11:g.108186589G>A (hg19) ; chr11:g.108315862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315862G>A , CM000673.2:g.108315862G>A	GRCh38
NC_000011.9:g.108186589G>A , CM000673.1:g.108186589G>A	GRCh37
NC_000011.8:g.107691799G>A	NCBI36
NG_009830.1:g.98031G>A , LRG_135:g.98031G>A
NG_054724.1:g.158971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6046G>A (ATM)	ENSP00000388058.2:p.Asp2016Asn
ENST00000713593.1:c.*5517G>A (ATM)	ENSP00000518889.1:n.*5517G>A
ENST00000278616.9:c.6046G>A (ATM)	ENSP00000278616.4:p.Asp2016Asn
ENST00000525056.2:n.465G>A (ATM)
ENST00000682286.1:n.803G>A (ATM)
ENST00000682302.1:n.464G>A (ATM)
ENST00000683174.1:n.7530G>A (ATM)
ENST00000683524.1:n.1270G>A (ATM)
ENST00000684152.1:n.1760G>A (ATM)
ENST00000527805.6:c.*1110G>A (ATM)	ENSP00000435747.2:n.*1110G>A
ENST00000675595.1:c.*1110G>A (ATM)	ENSP00000502563.1:n.*1110G>A
ENST00000675843.1:c.6046G>A (ATM) MANE Select	ENSP00000501606.1:p.Asp2016Asn
ENST00000278616.8:c.6046G>A (ATM)	ENSP00000278616.4:p.Asp2016Asn
ENST00000452508.6:c.6046G>A (ATM)	ENSP00000388058.2:p.Asp2016Asn
ENST00000524792.5:n.2261G>A (ATM)
ENST00000525729.5:c.641-6791C>T (C11orf65)	ENSP00000433395.1:n.641-6791C>T
ENST00000529588.5:c.470G>A (ATM)
ENST00000532765.1:n.363G>A (ATM)
ENST00000533690.5:n.1450G>A (ATM)
NM_000051.3:c.6046G>A , LRG_135t1:c.6046G>A (ATM)	NP_000042.3:p.Asp2016Asn
XM_005271561.3:c.6046G>A (ATM)	XP_005271618.2:p.Asp2016Asn
XM_005271562.3:c.6046G>A (ATM)	XP_005271619.2:p.Asp2016Asn
XM_006718843.2:c.6046G>A (ATM)	XP_006718906.1:p.Asp2016Asn
XM_006718845.1:c.2002G>A (ATM)	XP_006718908.1:p.Asp668Asn
XM_011542840.1:c.6046G>A (ATM)	XP_011541142.1:p.Asp2016Asn
XM_011542841.1:c.6046G>A (ATM)	XP_011541143.1:p.Asp2016Asn
XM_011542842.1:c.5881G>A (ATM)	XP_011541144.1:p.Asp1961Asn
XM_011542843.1:c.6046G>A (ATM)	XP_011541145.1:p.Asp2016Asn
XM_011542844.1:c.5002G>A (ATM)	XP_011541146.1:p.Asp1668Asn
XM_011542845.1:c.4738G>A (ATM)	XP_011541147.1:p.Asp1580Asn
XM_011542847.1:c.1117G>A (ATM)	XP_011541149.1:p.Asp373Asn
NM_001330368.1:c.641-6791C>T (C11orf65)	NP_001317297.1:n.641-6791C>T
NM_001351110.1:c.*39-6791C>T (C11orf65)	NP_001338039.1:n.*39-6791C>T
NM_001351834.1:c.6046G>A (ATM)	NP_001338763.1:p.Asp2016Asn
XM_005271562.5:c.6046G>A (ATM)	XP_005271619.2:p.Asp2016Asn
XM_006718843.4:c.6046G>A (ATM)	XP_006718906.1:p.Asp2016Asn
XM_006718845.2:c.2002G>A (ATM)	XP_006718908.1:p.Asp668Asn
XM_011542840.3:c.6046G>A (ATM)	XP_011541142.1:p.Asp2016Asn
XM_011542842.3:c.5881G>A (ATM)	XP_011541144.1:p.Asp1961Asn
XM_011542843.2:c.6046G>A (ATM)	XP_011541145.1:p.Asp2016Asn
XM_011542844.3:c.5002G>A (ATM)	XP_011541146.1:p.Asp1668Asn
XM_011542845.2:c.4738G>A (ATM)	XP_011541147.1:p.Asp1580Asn
XM_017017789.2:c.6046G>A (ATM)	XP_016873278.1:p.Asp2016Asn
XM_017017790.2:c.6046G>A (ATM)	XP_016873279.1:p.Asp2016Asn
XM_017017791.1:c.6046G>A (ATM)	XP_016873280.1:p.Asp2016Asn
NM_001330368.2:c.641-6791C>T (C11orf65)	NP_001317297.1:n.641-6791C>T
NM_001351110.2:c.*39-6791C>T (C11orf65)	NP_001338039.1:n.*39-6791C>T
NM_001351834.2:c.6046G>A (ATM)	NP_001338763.1:p.Asp2016Asn
NM_000051.4:c.6046G>A (ATM) MANE Select	NP_000042.3:p.Asp2016Asn