Canonical Allele Identifier: CA2573146528

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2136121706

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315902_108315911del , CM000673.2:g.108315902_108315911del	GRCh38
NC_000011.9:g.108186629_108186638del , CM000673.1:g.108186629_108186638del	GRCh37
NC_000011.8:g.107691839_107691848del	NCBI36
NG_009830.1:g.98071_98080del , LRG_135:g.98071_98080del
NG_054724.1:g.158922_158931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6086_6095del (ATM)	ENSP00000388058.2:p.Pro2029HisfsTer15
ENST00000713593.1:c.*5557_*5566del (ATM)	ENSP00000518889.1:n.*5557_*5566del
ENST00000278616.9:c.6086_6095del (ATM)	ENSP00000278616.4:p.Pro2029HisfsTer15
ENST00000525056.2:n.505_514del (ATM)
ENST00000682286.1:n.843_852del (ATM)
ENST00000682302.1:n.504_513del (ATM)
ENST00000683174.1:n.7570_7579del (ATM)
ENST00000683524.1:n.1310_1319del (ATM)
ENST00000684152.1:n.1800_1809del (ATM)
ENST00000527805.6:c.*1150_*1159del (ATM)	ENSP00000435747.2:n.*1150_*1159del
ENST00000675595.1:c.*1150_*1159del (ATM)	ENSP00000502563.1:n.*1150_*1159del
ENST00000675843.1:c.6086_6095del (ATM) MANE Select	ENSP00000501606.1:p.Pro2029HisfsTer15
ENST00000278616.8:c.6086_6095del (ATM)	ENSP00000278616.4:p.Pro2029HisfsTer15
ENST00000452508.6:c.6086_6095del (ATM)	ENSP00000388058.2:p.Pro2029HisfsTer15
ENST00000524792.5:n.2301_2310del (ATM)
ENST00000525729.5:c.641-6840_641-6831del (C11orf65)	ENSP00000433395.1:n.641-6840_641-6831del
ENST00000532765.1:n.403_412del (ATM)
ENST00000533690.5:n.1490_1499del (ATM)
NM_000051.3:c.6086_6095del , LRG_135t1:c.6086_6095del (ATM)	NP_000042.3:p.Pro2029HisfsTer15
XM_005271561.3:c.6086_6095del (ATM)	XP_005271618.2:p.Pro2029HisfsTer15
XM_005271562.3:c.6086_6095del (ATM)	XP_005271619.2:p.Pro2029HisfsTer15
XM_006718843.2:c.6086_6095del (ATM)	XP_006718906.1:p.Pro2029HisfsTer15
XM_006718845.1:c.2042_2051del (ATM)	XP_006718908.1:p.Pro681HisfsTer15
XM_011542840.1:c.6086_6095del (ATM)	XP_011541142.1:p.Pro2029HisfsTer15
XM_011542841.1:c.6086_6095del (ATM)	XP_011541143.1:p.Pro2029HisfsTer15
XM_011542842.1:c.5921_5930del (ATM)	XP_011541144.1:p.Pro1974HisfsTer15
XM_011542843.1:c.6086_6095del (ATM)	XP_011541145.1:p.Pro2029HisfsTer15
XM_011542844.1:c.5042_5051del (ATM)	XP_011541146.1:p.Pro1681HisfsTer15
XM_011542845.1:c.4778_4787del (ATM)	XP_011541147.1:p.Pro1593HisfsTer15
XM_011542847.1:c.1157_1166del (ATM)	XP_011541149.1:p.Pro386HisfsTer15
NM_001330368.1:c.641-6840_641-6831del (C11orf65)	NP_001317297.1:n.641-6840_641-6831del
NM_001351110.1:c.*39-6840_*39-6831del (C11orf65)	NP_001338039.1:n.*39-6840_*39-6831del
NM_001351834.1:c.6086_6095del (ATM)	NP_001338763.1:p.Pro2029HisfsTer15
XM_005271562.5:c.6086_6095del (ATM)	XP_005271619.2:p.Pro2029HisfsTer15
XM_006718843.4:c.6086_6095del (ATM)	XP_006718906.1:p.Pro2029HisfsTer15
XM_006718845.2:c.2042_2051del (ATM)	XP_006718908.1:p.Pro681HisfsTer15
XM_011542840.3:c.6086_6095del (ATM)	XP_011541142.1:p.Pro2029HisfsTer15
XM_011542842.3:c.5921_5930del (ATM)	XP_011541144.1:p.Pro1974HisfsTer15
XM_011542843.2:c.6086_6095del (ATM)	XP_011541145.1:p.Pro2029HisfsTer15
XM_011542844.3:c.5042_5051del (ATM)	XP_011541146.1:p.Pro1681HisfsTer15
XM_011542845.2:c.4778_4787del (ATM)	XP_011541147.1:p.Pro1593HisfsTer15
XM_017017789.2:c.6086_6095del (ATM)	XP_016873278.1:p.Pro2029HisfsTer15
XM_017017790.2:c.6086_6095del (ATM)	XP_016873279.1:p.Pro2029HisfsTer15
XM_017017791.1:c.6086_6095del (ATM)	XP_016873280.1:p.Pro2029HisfsTer15
NM_001330368.2:c.641-6840_641-6831del (C11orf65)	NP_001317297.1:n.641-6840_641-6831del
NM_001351110.2:c.*39-6840_*39-6831del (C11orf65)	NP_001338039.1:n.*39-6840_*39-6831del
NM_001351834.2:c.6086_6095del (ATM)	NP_001338763.1:p.Pro2029HisfsTer15
NM_000051.4:c.6086_6095del (ATM) MANE Select	NP_000042.3:p.Pro2029HisfsTer15