Canonical Allele Identifier: CA2615862442

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108332905-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332912_108332913del , CM000673.2:g.108332912_108332913del	GRCh38
NC_000011.9:g.108203639_108203640del , CM000673.1:g.108203639_108203640del	GRCh37
NC_000011.8:g.107708849_107708850del	NCBI36
NG_009830.1:g.115081_115082del , LRG_135:g.115081_115082del
NG_054724.1:g.141926_141927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7927+12_7927+13del (ATM)	ENSP00000388058.2:n.7927+12_7927+13del
ENST00000713593.1:c.*7398+12_*7398+13del (ATM)	ENSP00000518889.1:n.*7398+12_*7398+13del
ENST00000278616.9:c.7927+12_7927+13del (ATM)	ENSP00000278616.4:n.7927+12_7927+13del
ENST00000525056.2:n.2346+12_2346+13del (ATM)
ENST00000525537.3:n.1620_1621del (ATM)
ENST00000638786.2:n.625+875_625+876del (ATM)
ENST00000682286.1:n.2684+12_2684+13del (ATM)
ENST00000682302.1:n.2345+12_2345+13del (ATM)
ENST00000683174.1:n.9411+12_9411+13del (ATM)
ENST00000683524.1:n.3151+12_3151+13del (ATM)
ENST00000684152.1:n.3344-974_3344-973del (ATM)
ENST00000684180.1:n.401+12_401+13del (ATM)
ENST00000684447.1:n.3447_3448del (ATM)
ENST00000527805.6:c.*2991+12_*2991+13del (ATM)	ENSP00000435747.2:n.*2991+12_*2991+13del
ENST00000675595.1:c.*3062+12_*3062+13del (ATM)	ENSP00000502563.1:n.*3062+12_*3062+13del
ENST00000675843.1:c.7927+12_7927+13del (ATM) MANE Select	ENSP00000501606.1:n.7927+12_7927+13del
ENST00000278616.8:c.7927+12_7927+13del (ATM)	ENSP00000278616.4:n.7927+12_7927+13del
ENST00000452508.6:c.7927+12_7927+13del (ATM)	ENSP00000388058.2:n.7927+12_7927+13del
ENST00000524755.5:c.300-1340_300-1339del (C11orf65)
ENST00000524792.5:n.4142+12_4142+13del (ATM)
ENST00000525056.1:n.124+12_124+13del (ATM)
ENST00000525729.5:c.641-23836_641-23835del (C11orf65)	ENSP00000433395.1:n.641-23836_641-23835del
ENST00000527531.5:c.*1270-1340_*1270-1339del (C11orf65)	ENSP00000431706.1:n.*1270-1340_*1270-1339del
ENST00000533690.5:n.3331+12_3331+13del (ATM)
ENST00000533979.5:n.139+12_139+13del (ATM)
ENST00000615746.4:c.*1270-1340_*1270-1339del (C11orf65)	ENSP00000483537.1:n.*1270-1340_*1270-1339del
NM_000051.3:c.7927+12_7927+13del , LRG_135t1:c.7927+12_7927+13del (ATM)	NP_000042.3:n.7927+12_7927+13del
XM_005271414.3:c.*39-1340_*39-1339del (C11orf65)	XP_005271471.1:n.*39-1340_*39-1339del
XM_005271415.3:c.805-1340_805-1339del (C11orf65)	XP_005271472.1:n.805-1340_805-1339del
XM_005271561.3:c.7927+12_7927+13del (ATM)	XP_005271618.2:n.7927+12_7927+13del
XM_005271562.3:c.7927+12_7927+13del (ATM)	XP_005271619.2:n.7927+12_7927+13del
XM_006718843.2:c.7927+12_7927+13del (ATM)	XP_006718906.1:n.7927+12_7927+13del
XM_006718845.1:c.3883+12_3883+13del (ATM)	XP_006718908.1:n.3883+12_3883+13del
XM_011542840.1:c.7927+12_7927+13del (ATM)	XP_011541142.1:n.7927+12_7927+13del
XM_011542841.1:c.7927+12_7927+13del (ATM)	XP_011541143.1:n.7927+12_7927+13del
XM_011542842.1:c.7762+12_7762+13del (ATM)	XP_011541144.1:n.7762+12_7762+13del
XM_011542843.1:c.7927+12_7927+13del (ATM)	XP_011541145.1:n.7927+12_7927+13del
XM_011542844.1:c.6883+12_6883+13del (ATM)	XP_011541146.1:n.6883+12_6883+13del
XM_011542845.1:c.6619+12_6619+13del (ATM)	XP_011541147.1:n.6619+12_6619+13del
XM_011542847.1:c.2998+12_2998+13del (ATM)	XP_011541149.1:n.2998+12_2998+13del
NM_001330368.1:c.641-23836_641-23835del (C11orf65)	NP_001317297.1:n.641-23836_641-23835del
NM_001351110.1:c.*38+2313_*38+2314del (C11orf65)	NP_001338039.1:n.*38+2313_*38+2314del
NM_001351834.1:c.7927+12_7927+13del (ATM)	NP_001338763.1:n.7927+12_7927+13del
NR_147053.2:n.2375-1340_2375-1339del (C11orf65)
XM_005271414.4:c.*39-1340_*39-1339del (C11orf65)	XP_005271471.1:n.*39-1340_*39-1339del
XM_005271415.4:c.805-1340_805-1339del (C11orf65)	XP_005271472.1:n.805-1340_805-1339del
XM_005271562.5:c.7927+12_7927+13del (ATM)	XP_005271619.2:n.7927+12_7927+13del
XM_006718843.4:c.7927+12_7927+13del (ATM)	XP_006718906.1:n.7927+12_7927+13del
XM_006718845.2:c.3883+12_3883+13del (ATM)	XP_006718908.1:n.3883+12_3883+13del
XM_011542840.3:c.7927+12_7927+13del (ATM)	XP_011541142.1:n.7927+12_7927+13del
XM_011542842.3:c.7762+12_7762+13del (ATM)	XP_011541144.1:n.7762+12_7762+13del
XM_011542843.2:c.7927+12_7927+13del (ATM)	XP_011541145.1:n.7927+12_7927+13del
XM_011542844.3:c.6883+12_6883+13del (ATM)	XP_011541146.1:n.6883+12_6883+13del
XM_011542845.2:c.6619+12_6619+13del (ATM)	XP_011541147.1:n.6619+12_6619+13del
XM_017017789.2:c.7927+12_7927+13del (ATM)	XP_016873278.1:n.7927+12_7927+13del
XM_017017790.2:c.7927+12_7927+13del (ATM)	XP_016873279.1:n.7927+12_7927+13del
NM_001330368.2:c.641-23836_641-23835del (C11orf65)	NP_001317297.1:n.641-23836_641-23835del
NM_001351110.2:c.*38+2313_*38+2314del (C11orf65)	NP_001338039.1:n.*38+2313_*38+2314del
NM_001351834.2:c.7927+12_7927+13del (ATM)	NP_001338763.1:n.7927+12_7927+13del
NM_000051.4:c.7927+12_7927+13del (ATM) MANE Select	NP_000042.3:n.7927+12_7927+13del
NR_147053.3:n.2373-1340_2373-1339del (C11orf65)