Canonical Allele Identifier: CA382561532

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 524271
• ClinVar RCV Id: RCV000627920 ; RCV004025299
• dbSNP Id: rs1555125532
• gnomAD v4: 11-108332901-G-C
• MyVariant Identifiers: chr11:g.108203628G>C (hg19) ; chr11:g.108332901G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332901G>C , CM000673.2:g.108332901G>C	GRCh38
NC_000011.9:g.108203628G>C , CM000673.1:g.108203628G>C	GRCh37
NC_000011.8:g.107708838G>C	NCBI36
NG_009830.1:g.115070G>C , LRG_135:g.115070G>C
NG_054724.1:g.141932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7927+1G>C (ATM)	ENSP00000388058.2:n.7927+1G>C
ENST00000713593.1:c.*7398+1G>C (ATM)	ENSP00000518889.1:n.*7398+1G>C
ENST00000278616.9:c.7927+1G>C (ATM)	ENSP00000278616.4:n.7927+1G>C
ENST00000525056.2:n.2346+1G>C (ATM)
ENST00000525537.3:n.1609G>C (ATM)
ENST00000638786.2:n.625+864G>C (ATM)
ENST00000682286.1:n.2684+1G>C (ATM)
ENST00000682302.1:n.2345+1G>C (ATM)
ENST00000683174.1:n.9411+1G>C (ATM)
ENST00000683524.1:n.3151+1G>C (ATM)
ENST00000684152.1:n.3344-985G>C (ATM)
ENST00000684180.1:n.401+1G>C (ATM)
ENST00000684447.1:n.3436G>C (ATM)
ENST00000527805.6:c.*2991+1G>C (ATM)	ENSP00000435747.2:n.*2991+1G>C
ENST00000675595.1:c.*3062+1G>C (ATM)	ENSP00000502563.1:n.*3062+1G>C
ENST00000675843.1:c.7927+1G>C (ATM) MANE Select	ENSP00000501606.1:n.7927+1G>C
ENST00000278616.8:c.7927+1G>C (ATM)	ENSP00000278616.4:n.7927+1G>C
ENST00000452508.6:c.7927+1G>C (ATM)	ENSP00000388058.2:n.7927+1G>C
ENST00000524755.5:c.300-1334C>G (C11orf65)
ENST00000524792.5:n.4142+1G>C (ATM)
ENST00000525056.1:n.124+1G>C (ATM)
ENST00000525729.5:c.641-23830C>G (C11orf65)	ENSP00000433395.1:n.641-23830C>G
ENST00000527531.5:c.*1270-1334C>G (C11orf65)	ENSP00000431706.1:n.*1270-1334C>G
ENST00000533690.5:n.3331+1G>C (ATM)
ENST00000533979.5:n.139+1G>C (ATM)
ENST00000615746.4:c.*1270-1334C>G (C11orf65)	ENSP00000483537.1:n.*1270-1334C>G
NM_000051.3:c.7927+1G>C , LRG_135t1:c.7927+1G>C (ATM)	NP_000042.3:n.7927+1G>C
XM_005271414.3:c.*39-1334C>G (C11orf65)	XP_005271471.1:n.*39-1334C>G
XM_005271415.3:c.805-1334C>G (C11orf65)	XP_005271472.1:n.805-1334C>G
XM_005271561.3:c.7927+1G>C (ATM)	XP_005271618.2:n.7927+1G>C
XM_005271562.3:c.7927+1G>C (ATM)	XP_005271619.2:n.7927+1G>C
XM_006718843.2:c.7927+1G>C (ATM)	XP_006718906.1:n.7927+1G>C
XM_006718845.1:c.3883+1G>C (ATM)	XP_006718908.1:n.3883+1G>C
XM_011542840.1:c.7927+1G>C (ATM)	XP_011541142.1:n.7927+1G>C
XM_011542841.1:c.7927+1G>C (ATM)	XP_011541143.1:n.7927+1G>C
XM_011542842.1:c.7762+1G>C (ATM)	XP_011541144.1:n.7762+1G>C
XM_011542843.1:c.7927+1G>C (ATM)	XP_011541145.1:n.7927+1G>C
XM_011542844.1:c.6883+1G>C (ATM)	XP_011541146.1:n.6883+1G>C
XM_011542845.1:c.6619+1G>C (ATM)	XP_011541147.1:n.6619+1G>C
XM_011542847.1:c.2998+1G>C (ATM)	XP_011541149.1:n.2998+1G>C
NM_001330368.1:c.641-23830C>G (C11orf65)	NP_001317297.1:n.641-23830C>G
NM_001351110.1:c.*38+2319C>G (C11orf65)	NP_001338039.1:n.*38+2319C>G
NM_001351834.1:c.7927+1G>C (ATM)	NP_001338763.1:n.7927+1G>C
NR_147053.2:n.2375-1334C>G (C11orf65)
XM_005271414.4:c.*39-1334C>G (C11orf65)	XP_005271471.1:n.*39-1334C>G
XM_005271415.4:c.805-1334C>G (C11orf65)	XP_005271472.1:n.805-1334C>G
XM_005271562.5:c.7927+1G>C (ATM)	XP_005271619.2:n.7927+1G>C
XM_006718843.4:c.7927+1G>C (ATM)	XP_006718906.1:n.7927+1G>C
XM_006718845.2:c.3883+1G>C (ATM)	XP_006718908.1:n.3883+1G>C
XM_011542840.3:c.7927+1G>C (ATM)	XP_011541142.1:n.7927+1G>C
XM_011542842.3:c.7762+1G>C (ATM)	XP_011541144.1:n.7762+1G>C
XM_011542843.2:c.7927+1G>C (ATM)	XP_011541145.1:n.7927+1G>C
XM_011542844.3:c.6883+1G>C (ATM)	XP_011541146.1:n.6883+1G>C
XM_011542845.2:c.6619+1G>C (ATM)	XP_011541147.1:n.6619+1G>C
XM_017017789.2:c.7927+1G>C (ATM)	XP_016873278.1:n.7927+1G>C
XM_017017790.2:c.7927+1G>C (ATM)	XP_016873279.1:n.7927+1G>C
NM_001330368.2:c.641-23830C>G (C11orf65)	NP_001317297.1:n.641-23830C>G
NM_001351110.2:c.*38+2319C>G (C11orf65)	NP_001338039.1:n.*38+2319C>G
NM_001351834.2:c.7927+1G>C (ATM)	NP_001338763.1:n.7927+1G>C
NM_000051.4:c.7927+1G>C (ATM) MANE Select	NP_000042.3:n.7927+1G>C
NR_147053.3:n.2373-1334C>G (C11orf65)