Canonical Allele Identifier: CA6266005

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 414582
• ClinVar RCV Id: RCV000710678 ; RCV000771927 ; RCV001089315
• dbSNP Id: rs563933875
• ExAC: 11:108196226 C / T
• gnomAD v2: 11-108196226-C-T
• gnomAD v3: 11-108325499-C-T
• gnomAD v4: 11-108325499-C-T
• MyVariant Identifiers: chr11:g.108196226C>T (hg19) ; chr11:g.108325499C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325499C>T , CM000673.2:g.108325499C>T	GRCh38
NC_000011.9:g.108196226C>T , CM000673.1:g.108196226C>T	GRCh37
NC_000011.8:g.107701436C>T	NCBI36
NG_009830.1:g.107668C>T , LRG_135:g.107668C>T
NG_054724.1:g.149334G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6762C>T (ATM)	ENSP00000388058.2:p.His2254=
ENST00000713593.1:c.*6233C>T (ATM)	ENSP00000518889.1:n.*6233C>T
ENST00000278616.9:c.6762C>T (ATM)	ENSP00000278616.4:p.His2254=
ENST00000525056.2:n.1181C>T (ATM)
ENST00000682286.1:n.1519C>T (ATM)
ENST00000682302.1:n.1180C>T (ATM)
ENST00000683174.1:n.8246C>T (ATM)
ENST00000683524.1:n.1986C>T (ATM)
ENST00000684152.1:n.2476C>T (ATM)
ENST00000527805.6:c.*1826C>T (ATM)	ENSP00000435747.2:n.*1826C>T
ENST00000675595.1:c.*1897C>T (ATM)	ENSP00000502563.1:n.*1897C>T
ENST00000675843.1:c.6762C>T (ATM) MANE Select	ENSP00000501606.1:p.His2254=
ENST00000278616.8:c.6762C>T (ATM)	ENSP00000278616.4:p.His2254=
ENST00000452508.6:c.6762C>T (ATM)	ENSP00000388058.2:p.His2254=
ENST00000524792.5:n.2977C>T (ATM)
ENST00000525729.5:c.641-16428G>A (C11orf65)	ENSP00000433395.1:n.641-16428G>A
ENST00000533690.5:n.2166C>T (ATM)
NM_000051.3:c.6762C>T , LRG_135t1:c.6762C>T (ATM)	NP_000042.3:p.His2254=
XM_005271561.3:c.6762C>T (ATM)	XP_005271618.2:p.His2254=
XM_005271562.3:c.6762C>T (ATM)	XP_005271619.2:p.His2254=
XM_006718843.2:c.6762C>T (ATM)	XP_006718906.1:p.His2254=
XM_006718845.1:c.2718C>T (ATM)	XP_006718908.1:p.His906=
XM_011542840.1:c.6762C>T (ATM)	XP_011541142.1:p.His2254=
XM_011542841.1:c.6762C>T (ATM)	XP_011541143.1:p.His2254=
XM_011542842.1:c.6597C>T (ATM)	XP_011541144.1:p.His2199=
XM_011542843.1:c.6762C>T (ATM)	XP_011541145.1:p.His2254=
XM_011542844.1:c.5718C>T (ATM)	XP_011541146.1:p.His1906=
XM_011542845.1:c.5454C>T (ATM)	XP_011541147.1:p.His1818=
XM_011542847.1:c.1833C>T (ATM)	XP_011541149.1:p.His611=
NM_001330368.1:c.641-16428G>A (C11orf65)	NP_001317297.1:n.641-16428G>A
NM_001351110.1:c.*38+9721G>A (C11orf65)	NP_001338039.1:n.*38+9721G>A
NM_001351834.1:c.6762C>T (ATM)	NP_001338763.1:p.His2254=
XM_005271562.5:c.6762C>T (ATM)	XP_005271619.2:p.His2254=
XM_006718843.4:c.6762C>T (ATM)	XP_006718906.1:p.His2254=
XM_006718845.2:c.2718C>T (ATM)	XP_006718908.1:p.His906=
XM_011542840.3:c.6762C>T (ATM)	XP_011541142.1:p.His2254=
XM_011542842.3:c.6597C>T (ATM)	XP_011541144.1:p.His2199=
XM_011542843.2:c.6762C>T (ATM)	XP_011541145.1:p.His2254=
XM_011542844.3:c.5718C>T (ATM)	XP_011541146.1:p.His1906=
XM_011542845.2:c.5454C>T (ATM)	XP_011541147.1:p.His1818=
XM_017017789.2:c.6762C>T (ATM)	XP_016873278.1:p.His2254=
XM_017017790.2:c.6762C>T (ATM)	XP_016873279.1:p.His2254=
NM_001330368.2:c.641-16428G>A (C11orf65)	NP_001317297.1:n.641-16428G>A
NM_001351110.2:c.*38+9721G>A (C11orf65)	NP_001338039.1:n.*38+9721G>A
NM_001351834.2:c.6762C>T (ATM)	NP_001338763.1:p.His2254=
NM_000051.4:c.6762C>T (ATM) MANE Select	NP_000042.3:p.His2254=