Canonical Allele Identifier: CA2615862155

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108347194-TCAGTGGTCTTAATTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108347195_108347210del , CM000673.2:g.108347195_108347210del	GRCh38
NC_000011.9:g.108217922_108217937del , CM000673.1:g.108217922_108217937del	GRCh37
NC_000011.8:g.107723132_107723147del	NCBI36
NG_009830.1:g.129364_129379del , LRG_135:g.129364_129379del
NG_054724.1:g.127623_127638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8585-84_8585-69del (ATM)	ENSP00000388058.2:n.8585-84_8585-69del
ENST00000713593.1:c.*8056-84_*8056-69del (ATM)	ENSP00000518889.1:n.*8056-84_*8056-69del
ENST00000278616.9:c.8585-84_8585-69del (ATM)	ENSP00000278616.4:n.8585-84_8585-69del
ENST00000638786.2:n.1283-84_1283-69del (ATM)
ENST00000682286.1:n.3342-84_3342-69del (ATM)
ENST00000682302.1:n.3003-84_3003-69del (ATM)
ENST00000683174.1:n.10069-84_10069-69del (ATM)
ENST00000683524.1:n.3809-84_3809-69del (ATM)
ENST00000684152.1:n.4001-84_4001-69del (ATM)
ENST00000684180.1:n.1059-84_1059-69del (ATM)
ENST00000684447.1:n.5078-84_5078-69del (ATM)
ENST00000527805.6:c.*3649-84_*3649-69del (ATM)	ENSP00000435747.2:n.*3649-84_*3649-69del
ENST00000675595.1:c.*3720-84_*3720-69del (ATM)	ENSP00000502563.1:n.*3720-84_*3720-69del
ENST00000675843.1:c.8585-84_8585-69del (ATM) MANE Select	ENSP00000501606.1:n.8585-84_8585-69del
ENST00000278616.8:c.8585-84_8585-69del (ATM)	ENSP00000278616.4:n.8585-84_8585-69del
ENST00000452508.6:c.8585-84_8585-69del (ATM)	ENSP00000388058.2:n.8585-84_8585-69del
ENST00000524755.5:c.227-11918_227-11903del (C11orf65)
ENST00000524792.5:n.4800-84_4800-69del (ATM)
ENST00000525178.5:n.73-84_73-69del (ATM)
ENST00000525729.5:c.641-38139_641-38124del (C11orf65)	ENSP00000433395.1:n.641-38139_641-38124del
ENST00000526725.1:n.272-6846_272-6831del (C11orf65)
ENST00000527531.5:c.*1196+7705_*1196+7720del (C11orf65)	ENSP00000431706.1:n.*1196+7705_*1196+7720del
ENST00000615746.4:c.*1196+7705_*1196+7720del (C11orf65)	ENSP00000483537.1:n.*1196+7705_*1196+7720del
NM_000051.3:c.8585-84_8585-69del , LRG_135t1:c.8585-84_8585-69del (ATM)	NP_000042.3:n.8585-84_8585-69del
XM_005271414.3:c.788-11918_788-11903del (C11orf65)	XP_005271471.1:n.788-11918_788-11903del
XM_005271415.3:c.732-11918_732-11903del (C11orf65)	XP_005271472.1:n.732-11918_732-11903del
XM_005271561.3:c.8585-84_8585-69del (ATM)	XP_005271618.2:n.8585-84_8585-69del
XM_005271562.3:c.8585-84_8585-69del (ATM)	XP_005271619.2:n.8585-84_8585-69del
XM_006718843.2:c.8585-84_8585-69del (ATM)	XP_006718906.1:n.8585-84_8585-69del
XM_006718845.1:c.4541-84_4541-69del (ATM)	XP_006718908.1:n.4541-84_4541-69del
XM_011542640.1:c.788-6846_788-6831del (C11orf65)	XP_011540942.1:n.788-6846_788-6831del
XM_011542643.1:c.732-6846_732-6831del (C11orf65)	XP_011540945.1:n.732-6846_732-6831del
XM_011542840.1:c.8585-84_8585-69del (ATM)	XP_011541142.1:n.8585-84_8585-69del
XM_011542841.1:c.8585-84_8585-69del (ATM)	XP_011541143.1:n.8585-84_8585-69del
XM_011542842.1:c.8420-84_8420-69del (ATM)	XP_011541144.1:n.8420-84_8420-69del
XM_011542843.1:c.8585-84_8585-69del (ATM)	XP_011541145.1:n.8585-84_8585-69del
XM_011542844.1:c.7541-84_7541-69del (ATM)	XP_011541146.1:n.7541-84_7541-69del
XM_011542845.1:c.7277-84_7277-69del (ATM)	XP_011541147.1:n.7277-84_7277-69del
XM_011542847.1:c.3656-84_3656-69del (ATM)	XP_011541149.1:n.3656-84_3656-69del
NM_001330368.1:c.641-38139_641-38124del (C11orf65)	NP_001317297.1:n.641-38139_641-38124del
NM_001351110.1:c.695-11918_695-11903del (C11orf65)	NP_001338039.1:n.695-11918_695-11903del
NM_001351834.1:c.8585-84_8585-69del (ATM)	NP_001338763.1:n.8585-84_8585-69del
NR_147053.2:n.2301+7705_2301+7720del (C11orf65)
XM_005271414.4:c.788-11918_788-11903del (C11orf65)	XP_005271471.1:n.788-11918_788-11903del
XM_005271415.4:c.732-11918_732-11903del (C11orf65)	XP_005271472.1:n.732-11918_732-11903del
XM_005271562.5:c.8585-84_8585-69del (ATM)	XP_005271619.2:n.8585-84_8585-69del
XM_006718843.4:c.8585-84_8585-69del (ATM)	XP_006718906.1:n.8585-84_8585-69del
XM_006718845.2:c.4541-84_4541-69del (ATM)	XP_006718908.1:n.4541-84_4541-69del
XM_011542640.2:c.788-6846_788-6831del (C11orf65)	XP_011540942.1:n.788-6846_788-6831del
XM_011542643.2:c.732-6846_732-6831del (C11orf65)	XP_011540945.1:n.732-6846_732-6831del
XM_011542840.3:c.8585-84_8585-69del (ATM)	XP_011541142.1:n.8585-84_8585-69del
XM_011542842.3:c.8420-84_8420-69del (ATM)	XP_011541144.1:n.8420-84_8420-69del
XM_011542843.2:c.8585-84_8585-69del (ATM)	XP_011541145.1:n.8585-84_8585-69del
XM_011542844.3:c.7541-84_7541-69del (ATM)	XP_011541146.1:n.7541-84_7541-69del
XM_011542845.2:c.7277-84_7277-69del (ATM)	XP_011541147.1:n.7277-84_7277-69del
XM_017017247.1:c.904-6846_904-6831del (C11orf65)	XP_016872736.1:n.904-6846_904-6831del
XM_017017789.2:c.8585-84_8585-69del (ATM)	XP_016873278.1:n.8585-84_8585-69del
XM_017017790.2:c.8585-84_8585-69del (ATM)	XP_016873279.1:n.8585-84_8585-69del
NM_001330368.2:c.641-38139_641-38124del (C11orf65)	NP_001317297.1:n.641-38139_641-38124del
NM_001351110.2:c.695-11918_695-11903del (C11orf65)	NP_001338039.1:n.695-11918_695-11903del
NM_001351834.2:c.8585-84_8585-69del (ATM)	NP_001338763.1:n.8585-84_8585-69del
NM_000051.4:c.8585-84_8585-69del (ATM) MANE Select	NP_000042.3:n.8585-84_8585-69del
NR_147053.3:n.2299+7705_2299+7720del (C11orf65)