Canonical Allele Identifier: CA2615862177

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108332687-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332687C>A , CM000673.2:g.108332687C>A	GRCh38
NC_000011.9:g.108203414C>A , CM000673.1:g.108203414C>A	GRCh37
NC_000011.8:g.107708624C>A	NCBI36
NG_009830.1:g.114856C>A , LRG_135:g.114856C>A
NG_054724.1:g.142146G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7789-75C>A (ATM)	ENSP00000388058.2:n.7789-75C>A
ENST00000713593.1:c.*7260-75C>A (ATM)	ENSP00000518889.1:n.*7260-75C>A
ENST00000278616.9:c.7789-75C>A (ATM)	ENSP00000278616.4:n.7789-75C>A
ENST00000525056.2:n.2208-75C>A (ATM)
ENST00000525537.3:n.1395C>A (ATM)
ENST00000638786.2:n.625+650C>A (ATM)
ENST00000682286.1:n.2546-75C>A (ATM)
ENST00000682302.1:n.2207-75C>A (ATM)
ENST00000683174.1:n.9273-75C>A (ATM)
ENST00000683524.1:n.3013-75C>A (ATM)
ENST00000684152.1:n.3343+1130C>A (ATM)
ENST00000684180.1:n.188C>A (ATM)
ENST00000684447.1:n.3222C>A (ATM)
ENST00000527805.6:c.*2853-75C>A (ATM)	ENSP00000435747.2:n.*2853-75C>A
ENST00000675595.1:c.*2924-75C>A (ATM)	ENSP00000502563.1:n.*2924-75C>A
ENST00000675843.1:c.7789-75C>A (ATM) MANE Select	ENSP00000501606.1:n.7789-75C>A
ENST00000278616.8:c.7789-75C>A (ATM)	ENSP00000278616.4:n.7789-75C>A
ENST00000452508.6:c.7789-75C>A (ATM)	ENSP00000388058.2:n.7789-75C>A
ENST00000524755.5:c.300-1120G>T (C11orf65)
ENST00000524792.5:n.4004-75C>A (ATM)
ENST00000525729.5:c.641-23616G>T (C11orf65)	ENSP00000433395.1:n.641-23616G>T
ENST00000527531.5:c.*1270-1120G>T (C11orf65)	ENSP00000431706.1:n.*1270-1120G>T
ENST00000533690.5:n.3193-75C>A (ATM)
ENST00000615746.4:c.*1270-1120G>T (C11orf65)	ENSP00000483537.1:n.*1270-1120G>T
NM_000051.3:c.7789-75C>A , LRG_135t1:c.7789-75C>A (ATM)	NP_000042.3:n.7789-75C>A
XM_005271414.3:c.*39-1120G>T (C11orf65)	XP_005271471.1:n.*39-1120G>T
XM_005271415.3:c.805-1120G>T (C11orf65)	XP_005271472.1:n.805-1120G>T
XM_005271561.3:c.7789-75C>A (ATM)	XP_005271618.2:n.7789-75C>A
XM_005271562.3:c.7789-75C>A (ATM)	XP_005271619.2:n.7789-75C>A
XM_006718843.2:c.7789-75C>A (ATM)	XP_006718906.1:n.7789-75C>A
XM_006718845.1:c.3745-75C>A (ATM)	XP_006718908.1:n.3745-75C>A
XM_011542840.1:c.7789-75C>A (ATM)	XP_011541142.1:n.7789-75C>A
XM_011542841.1:c.7789-75C>A (ATM)	XP_011541143.1:n.7789-75C>A
XM_011542842.1:c.7624-75C>A (ATM)	XP_011541144.1:n.7624-75C>A
XM_011542843.1:c.7789-75C>A (ATM)	XP_011541145.1:n.7789-75C>A
XM_011542844.1:c.6745-75C>A (ATM)	XP_011541146.1:n.6745-75C>A
XM_011542845.1:c.6481-75C>A (ATM)	XP_011541147.1:n.6481-75C>A
XM_011542847.1:c.2860-75C>A (ATM)	XP_011541149.1:n.2860-75C>A
NM_001330368.1:c.641-23616G>T (C11orf65)	NP_001317297.1:n.641-23616G>T
NM_001351110.1:c.*38+2533G>T (C11orf65)	NP_001338039.1:n.*38+2533G>T
NM_001351834.1:c.7789-75C>A (ATM)	NP_001338763.1:n.7789-75C>A
NR_147053.2:n.2375-1120G>T (C11orf65)
XM_005271414.4:c.*39-1120G>T (C11orf65)	XP_005271471.1:n.*39-1120G>T
XM_005271415.4:c.805-1120G>T (C11orf65)	XP_005271472.1:n.805-1120G>T
XM_005271562.5:c.7789-75C>A (ATM)	XP_005271619.2:n.7789-75C>A
XM_006718843.4:c.7789-75C>A (ATM)	XP_006718906.1:n.7789-75C>A
XM_006718845.2:c.3745-75C>A (ATM)	XP_006718908.1:n.3745-75C>A
XM_011542840.3:c.7789-75C>A (ATM)	XP_011541142.1:n.7789-75C>A
XM_011542842.3:c.7624-75C>A (ATM)	XP_011541144.1:n.7624-75C>A
XM_011542843.2:c.7789-75C>A (ATM)	XP_011541145.1:n.7789-75C>A
XM_011542844.3:c.6745-75C>A (ATM)	XP_011541146.1:n.6745-75C>A
XM_011542845.2:c.6481-75C>A (ATM)	XP_011541147.1:n.6481-75C>A
XM_017017789.2:c.7789-75C>A (ATM)	XP_016873278.1:n.7789-75C>A
XM_017017790.2:c.7789-75C>A (ATM)	XP_016873279.1:n.7789-75C>A
NM_001330368.2:c.641-23616G>T (C11orf65)	NP_001317297.1:n.641-23616G>T
NM_001351110.2:c.*38+2533G>T (C11orf65)	NP_001338039.1:n.*38+2533G>T
NM_001351834.2:c.7789-75C>A (ATM)	NP_001338763.1:n.7789-75C>A
NM_000051.4:c.7789-75C>A (ATM) MANE Select	NP_000042.3:n.7789-75C>A
NR_147053.3:n.2373-1120G>T (C11orf65)