Canonical Allele Identifier: CA671413528
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs1480361443

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108325865_108325868del , CM000673.2:g.108325865_108325868del GRCh38
NC_000011.9:g.108196592_108196595del , CM000673.1:g.108196592_108196595del GRCh37
NC_000011.8:g.107701802_107701805del NCBI36
NG_009830.1:g.108034_108037del , LRG_135:g.108034_108037del
NG_054724.1:g.148970_148973del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.6808-193_6808-190del (ATM) ENSP00000388058.2:n.6808-193_6808-190del
ENST00000713593.1:c.*6279-193_*6279-190del (ATM) ENSP00000518889.1:n.*6279-193_*6279-190del
ENST00000278616.9:c.6808-193_6808-190del (ATM) ENSP00000278616.4:n.6808-193_6808-190del
ENST00000525056.2:n.1227-193_1227-190del (ATM)
ENST00000682286.1:n.1565-193_1565-190del (ATM)
ENST00000682302.1:n.1226-193_1226-190del (ATM)
ENST00000683174.1:n.8292-193_8292-190del (ATM)
ENST00000683524.1:n.2032-193_2032-190del (ATM)
ENST00000684152.1:n.2522-193_2522-190del (ATM)
ENST00000527805.6:c.*1872-193_*1872-190del (ATM) ENSP00000435747.2:n.*1872-193_*1872-190del
ENST00000675595.1:c.*1943-193_*1943-190del (ATM) ENSP00000502563.1:n.*1943-193_*1943-190del
ENST00000675843.1:c.6808-193_6808-190del (ATM) MANE Select ENSP00000501606.1:n.6808-193_6808-190del
ENST00000278616.8:c.6808-193_6808-190del (ATM) ENSP00000278616.4:n.6808-193_6808-190del
ENST00000452508.6:c.6808-193_6808-190del (ATM) ENSP00000388058.2:n.6808-193_6808-190del
ENST00000524792.5:n.3023-193_3023-190del (ATM)
ENST00000525729.5:c.641-16792_641-16789del (C11orf65) ENSP00000433395.1:n.641-16792_641-16789del
ENST00000533690.5:n.2212-193_2212-190del (ATM)
NM_000051.3:c.6808-193_6808-190del , LRG_135t1:c.6808-193_6808-190del (ATM) NP_000042.3:n.6808-193_6808-190del
XM_005271561.3:c.6808-193_6808-190del (ATM) XP_005271618.2:n.6808-193_6808-190del
XM_005271562.3:c.6808-193_6808-190del (ATM) XP_005271619.2:n.6808-193_6808-190del
XM_006718843.2:c.6808-193_6808-190del (ATM) XP_006718906.1:n.6808-193_6808-190del
XM_006718845.1:c.2764-193_2764-190del (ATM) XP_006718908.1:n.2764-193_2764-190del
XM_011542840.1:c.6808-193_6808-190del (ATM) XP_011541142.1:n.6808-193_6808-190del
XM_011542841.1:c.6808-193_6808-190del (ATM) XP_011541143.1:n.6808-193_6808-190del
XM_011542842.1:c.6643-193_6643-190del (ATM) XP_011541144.1:n.6643-193_6643-190del
XM_011542843.1:c.6808-193_6808-190del (ATM) XP_011541145.1:n.6808-193_6808-190del
XM_011542844.1:c.5764-193_5764-190del (ATM) XP_011541146.1:n.5764-193_5764-190del
XM_011542845.1:c.5500-193_5500-190del (ATM) XP_011541147.1:n.5500-193_5500-190del
XM_011542847.1:c.1879-193_1879-190del (ATM) XP_011541149.1:n.1879-193_1879-190del
NM_001330368.1:c.641-16792_641-16789del (C11orf65) NP_001317297.1:n.641-16792_641-16789del
NM_001351110.1:c.*38+9357_*38+9360del (C11orf65) NP_001338039.1:n.*38+9357_*38+9360del
NM_001351834.1:c.6808-193_6808-190del (ATM) NP_001338763.1:n.6808-193_6808-190del
XM_005271562.5:c.6808-193_6808-190del (ATM) XP_005271619.2:n.6808-193_6808-190del
XM_006718843.4:c.6808-193_6808-190del (ATM) XP_006718906.1:n.6808-193_6808-190del
XM_006718845.2:c.2764-193_2764-190del (ATM) XP_006718908.1:n.2764-193_2764-190del
XM_011542840.3:c.6808-193_6808-190del (ATM) XP_011541142.1:n.6808-193_6808-190del
XM_011542842.3:c.6643-193_6643-190del (ATM) XP_011541144.1:n.6643-193_6643-190del
XM_011542843.2:c.6808-193_6808-190del (ATM) XP_011541145.1:n.6808-193_6808-190del
XM_011542844.3:c.5764-193_5764-190del (ATM) XP_011541146.1:n.5764-193_5764-190del
XM_011542845.2:c.5500-193_5500-190del (ATM) XP_011541147.1:n.5500-193_5500-190del
XM_017017789.2:c.6808-193_6808-190del (ATM) XP_016873278.1:n.6808-193_6808-190del
XM_017017790.2:c.6808-193_6808-190del (ATM) XP_016873279.1:n.6808-193_6808-190del
NM_001330368.2:c.641-16792_641-16789del (C11orf65) NP_001317297.1:n.641-16792_641-16789del
NM_001351110.2:c.*38+9357_*38+9360del (C11orf65) NP_001338039.1:n.*38+9357_*38+9360del
NM_001351834.2:c.6808-193_6808-190del (ATM) NP_001338763.1:n.6808-193_6808-190del
NM_000051.4:c.6808-193_6808-190del (ATM) MANE Select NP_000042.3:n.6808-193_6808-190del