Canonical Allele Identifier: CA1998809212
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108327407_108327408delinsTA , CM000673.2:g.108327407_108327408delinsTA GRCh38
NC_000011.9:g.108198134_108198135delinsTA , CM000673.1:g.108198134_108198135delinsTA GRCh37
NC_000011.8:g.107703344_107703345delinsTA NCBI36
NG_009830.1:g.109576_109577delinsTA , LRG_135:g.109576_109577delinsTA
NG_054724.1:g.147425_147426delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6976-238_6976-237delinsTA (ATM) ENSP00000388058.2:n.6976-238_6976-237delinsTA
ENST00000713593.1:c.*6447-238_*6447-237delinsTA (ATM) ENSP00000518889.1:n.*6447-238_*6447-237delinsTA
ENST00000278616.9:c.6976-238_6976-237delinsTA (ATM) ENSP00000278616.4:n.6976-238_6976-237delinsTA
ENST00000525056.2:n.1395-238_1395-237delinsTA (ATM)
ENST00000682286.1:n.1733-238_1733-237delinsTA (ATM)
ENST00000682302.1:n.1394-238_1394-237delinsTA (ATM)
ENST00000683174.1:n.8460-238_8460-237delinsTA (ATM)
ENST00000683524.1:n.2200-238_2200-237delinsTA (ATM)
ENST00000684152.1:n.2690-238_2690-237delinsTA (ATM)
ENST00000684447.1:n.1201_1202delinsTA (ATM)
ENST00000527805.6:c.*2040-238_*2040-237delinsTA (ATM) ENSP00000435747.2:n.*2040-238_*2040-237delinsTA
ENST00000675595.1:c.*2111-238_*2111-237delinsTA (ATM) ENSP00000502563.1:n.*2111-238_*2111-237delinsTA
ENST00000675843.1:c.6976-238_6976-237delinsTA (ATM) MANE Select ENSP00000501606.1:n.6976-238_6976-237delinsTA
ENST00000278616.8:c.6976-238_6976-237delinsTA (ATM) ENSP00000278616.4:n.6976-238_6976-237delinsTA
ENST00000452508.6:c.6976-238_6976-237delinsTA (ATM) ENSP00000388058.2:n.6976-238_6976-237delinsTA
ENST00000524792.5:n.3191-238_3191-237delinsTA (ATM)
ENST00000525537.2:n.14_15delinsTA (ATM)
ENST00000525729.5:c.641-18337_641-18336delinsTA (C11orf65) ENSP00000433395.1:n.641-18337_641-18336delinsTA
ENST00000533690.5:n.2380-238_2380-237delinsTA (ATM)
NM_000051.3:c.6976-238_6976-237delinsTA , LRG_135t1:c.6976-238_6976-237delinsTA (ATM) NP_000042.3:n.6976-238_6976-237delinsTA
XM_005271561.3:c.6976-238_6976-237delinsTA (ATM) XP_005271618.2:n.6976-238_6976-237delinsTA
XM_005271562.3:c.6976-238_6976-237delinsTA (ATM) XP_005271619.2:n.6976-238_6976-237delinsTA
XM_006718843.2:c.6976-238_6976-237delinsTA (ATM) XP_006718906.1:n.6976-238_6976-237delinsTA
XM_006718845.1:c.2932-238_2932-237delinsTA (ATM) XP_006718908.1:n.2932-238_2932-237delinsTA
XM_011542840.1:c.6976-238_6976-237delinsTA (ATM) XP_011541142.1:n.6976-238_6976-237delinsTA
XM_011542841.1:c.6976-238_6976-237delinsTA (ATM) XP_011541143.1:n.6976-238_6976-237delinsTA
XM_011542842.1:c.6811-238_6811-237delinsTA (ATM) XP_011541144.1:n.6811-238_6811-237delinsTA
XM_011542843.1:c.6976-238_6976-237delinsTA (ATM) XP_011541145.1:n.6976-238_6976-237delinsTA
XM_011542844.1:c.5932-238_5932-237delinsTA (ATM) XP_011541146.1:n.5932-238_5932-237delinsTA
XM_011542845.1:c.5668-238_5668-237delinsTA (ATM) XP_011541147.1:n.5668-238_5668-237delinsTA
XM_011542847.1:c.2047-238_2047-237delinsTA (ATM) XP_011541149.1:n.2047-238_2047-237delinsTA
NM_001330368.1:c.641-18337_641-18336delinsTA (C11orf65) NP_001317297.1:n.641-18337_641-18336delinsTA
NM_001351110.1:c.*38+7812_*38+7813delinsTA (C11orf65) NP_001338039.1:n.*38+7812_*38+7813delinsTA
NM_001351834.1:c.6976-238_6976-237delinsTA (ATM) NP_001338763.1:n.6976-238_6976-237delinsTA
XM_005271562.5:c.6976-238_6976-237delinsTA (ATM) XP_005271619.2:n.6976-238_6976-237delinsTA
XM_006718843.4:c.6976-238_6976-237delinsTA (ATM) XP_006718906.1:n.6976-238_6976-237delinsTA
XM_006718845.2:c.2932-238_2932-237delinsTA (ATM) XP_006718908.1:n.2932-238_2932-237delinsTA
XM_011542840.3:c.6976-238_6976-237delinsTA (ATM) XP_011541142.1:n.6976-238_6976-237delinsTA
XM_011542842.3:c.6811-238_6811-237delinsTA (ATM) XP_011541144.1:n.6811-238_6811-237delinsTA
XM_011542843.2:c.6976-238_6976-237delinsTA (ATM) XP_011541145.1:n.6976-238_6976-237delinsTA
XM_011542844.3:c.5932-238_5932-237delinsTA (ATM) XP_011541146.1:n.5932-238_5932-237delinsTA
XM_011542845.2:c.5668-238_5668-237delinsTA (ATM) XP_011541147.1:n.5668-238_5668-237delinsTA
XM_017017789.2:c.6976-238_6976-237delinsTA (ATM) XP_016873278.1:n.6976-238_6976-237delinsTA
XM_017017790.2:c.6976-238_6976-237delinsTA (ATM) XP_016873279.1:n.6976-238_6976-237delinsTA
NM_001330368.2:c.641-18337_641-18336delinsTA (C11orf65) NP_001317297.1:n.641-18337_641-18336delinsTA
NM_001351110.2:c.*38+7812_*38+7813delinsTA (C11orf65) NP_001338039.1:n.*38+7812_*38+7813delinsTA
NM_001351834.2:c.6976-238_6976-237delinsTA (ATM) NP_001338763.1:n.6976-238_6976-237delinsTA
NM_000051.4:c.6976-238_6976-237delinsTA (ATM) MANE Select NP_000042.3:n.6976-238_6976-237delinsTA