Canonical Allele Identifier: CA2615863475

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108335883-GGTCTTCCAGATGTGTAATACATTACTGCAGAGAAACACGGAAACTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335885_108335930del , CM000673.2:g.108335885_108335930del	GRCh38
NC_000011.9:g.108206612_108206657del , CM000673.1:g.108206612_108206657del	GRCh37
NC_000011.8:g.107711822_107711867del	NCBI36
NG_009830.1:g.118054_118099del , LRG_135:g.118054_118099del
NG_054724.1:g.138904_138949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8192_8237del (ATM)	ENSP00000388058.2:p.Val2731GlyfsTer5
ENST00000713593.1:c.*7663_*7708del (ATM)	ENSP00000518889.1:n.*7663_*7708del
ENST00000278616.9:c.8192_8237del (ATM)	ENSP00000278616.4:p.Val2731GlyfsTer5
ENST00000525056.2:n.2611_2656del (ATM)
ENST00000638786.2:n.890_935del (ATM)
ENST00000682286.1:n.2949_2994del (ATM)
ENST00000682302.1:n.2610_2655del (ATM)
ENST00000683174.1:n.9676_9721del (ATM)
ENST00000683524.1:n.3416_3461del (ATM)
ENST00000684152.1:n.3608_3653del (ATM)
ENST00000684180.1:n.666_711del (ATM)
ENST00000684447.1:n.4685_4730del (ATM)
ENST00000527805.6:c.*3256_*3301del (ATM)	ENSP00000435747.2:n.*3256_*3301del
ENST00000675595.1:c.*3327_*3372del (ATM)	ENSP00000502563.1:n.*3327_*3372del
ENST00000675843.1:c.8192_8237del (ATM) MANE Select	ENSP00000501606.1:p.Val2731GlyfsTer5
ENST00000278616.8:c.8192_8237del (ATM)	ENSP00000278616.4:p.Val2731GlyfsTer5
ENST00000452508.6:c.8192_8237del (ATM)	ENSP00000388058.2:p.Val2731GlyfsTer5
ENST00000524755.5:c.227-637_227-592del (C11orf65)
ENST00000524792.5:n.4407_4452del (ATM)
ENST00000525056.1:n.389_434del (ATM)
ENST00000525729.5:c.641-26858_641-26813del (C11orf65)	ENSP00000433395.1:n.641-26858_641-26813del
ENST00000527531.5:c.*1197-637_*1197-592del (C11orf65)	ENSP00000431706.1:n.*1197-637_*1197-592del
ENST00000533979.5:n.404_449del (ATM)
ENST00000615746.4:c.*1197-637_*1197-592del (C11orf65)	ENSP00000483537.1:n.*1197-637_*1197-592del
NM_000051.3:c.8192_8237del , LRG_135t1:c.8192_8237del (ATM)	NP_000042.3:p.Val2731GlyfsTer5
XM_005271414.3:c.788-637_788-592del (C11orf65)	XP_005271471.1:n.788-637_788-592del
XM_005271415.3:c.732-637_732-592del (C11orf65)	XP_005271472.1:n.732-637_732-592del
XM_005271561.3:c.8192_8237del (ATM)	XP_005271618.2:p.Val2731GlyfsTer5
XM_005271562.3:c.8192_8237del (ATM)	XP_005271619.2:p.Val2731GlyfsTer5
XM_006718843.2:c.8192_8237del (ATM)	XP_006718906.1:p.Val2731GlyfsTer5
XM_006718845.1:c.4148_4193del (ATM)	XP_006718908.1:p.Val1383GlyfsTer5
XM_011542840.1:c.8192_8237del (ATM)	XP_011541142.1:p.Val2731GlyfsTer5
XM_011542841.1:c.8192_8237del (ATM)	XP_011541143.1:p.Val2731GlyfsTer5
XM_011542842.1:c.8027_8072del (ATM)	XP_011541144.1:p.Val2676GlyfsTer5
XM_011542843.1:c.8192_8237del (ATM)	XP_011541145.1:p.Val2731GlyfsTer5
XM_011542844.1:c.7148_7193del (ATM)	XP_011541146.1:p.Val2383GlyfsTer5
XM_011542845.1:c.6884_6929del (ATM)	XP_011541147.1:p.Val2295GlyfsTer5
XM_011542847.1:c.3263_3308del (ATM)	XP_011541149.1:p.Val1088GlyfsTer5
NM_001330368.1:c.641-26858_641-26813del (C11orf65)	NP_001317297.1:n.641-26858_641-26813del
NM_001351110.1:c.695-637_695-592del (C11orf65)	NP_001338039.1:n.695-637_695-592del
NM_001351834.1:c.8192_8237del (ATM)	NP_001338763.1:p.Val2731GlyfsTer5
NR_147053.2:n.2302-637_2302-592del (C11orf65)
XM_005271414.4:c.788-637_788-592del (C11orf65)	XP_005271471.1:n.788-637_788-592del
XM_005271415.4:c.732-637_732-592del (C11orf65)	XP_005271472.1:n.732-637_732-592del
XM_005271562.5:c.8192_8237del (ATM)	XP_005271619.2:p.Val2731GlyfsTer5
XM_006718843.4:c.8192_8237del (ATM)	XP_006718906.1:p.Val2731GlyfsTer5
XM_006718845.2:c.4148_4193del (ATM)	XP_006718908.1:p.Val1383GlyfsTer5
XM_011542840.3:c.8192_8237del (ATM)	XP_011541142.1:p.Val2731GlyfsTer5
XM_011542842.3:c.8027_8072del (ATM)	XP_011541144.1:p.Val2676GlyfsTer5
XM_011542843.2:c.8192_8237del (ATM)	XP_011541145.1:p.Val2731GlyfsTer5
XM_011542844.3:c.7148_7193del (ATM)	XP_011541146.1:p.Val2383GlyfsTer5
XM_011542845.2:c.6884_6929del (ATM)	XP_011541147.1:p.Val2295GlyfsTer5
XM_017017789.2:c.8192_8237del (ATM)	XP_016873278.1:p.Val2731GlyfsTer5
XM_017017790.2:c.8192_8237del (ATM)	XP_016873279.1:p.Val2731GlyfsTer5
NM_001330368.2:c.641-26858_641-26813del (C11orf65)	NP_001317297.1:n.641-26858_641-26813del
NM_001351110.2:c.695-637_695-592del (C11orf65)	NP_001338039.1:n.695-637_695-592del
NM_001351834.2:c.8192_8237del (ATM)	NP_001338763.1:p.Val2731GlyfsTer5
NM_000051.4:c.8192_8237del (ATM) MANE Select	NP_000042.3:p.Val2731GlyfsTer5
NR_147053.3:n.2300-637_2300-592del (C11orf65)