Canonical Allele Identifier: CA382518132

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108345823C>G , CM000673.2:g.108345823C>G	GRCh38
NC_000011.9:g.108216550C>G , CM000673.1:g.108216550C>G	GRCh37
NC_000011.8:g.107721760C>G	NCBI36
NG_009830.1:g.127992C>G , LRG_135:g.127992C>G
NG_054724.1:g.129010G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.8499C>G (ATM) MANE Select	NP_000042.3:p.Tyr2833Ter
ENST00000675843.1:c.8499C>G (ATM) MANE Select	ENSP00000501606.1:p.Tyr2833Ter
NM_000051.3:c.8499C>G , LRG_135t1:c.8499C>G (ATM)	NP_000042.3:p.Tyr2833Ter
NM_001330368.1:c.641-36752G>C (C11orf65)	NP_001317297.1:n.641-36752G>C
NM_001330368.2:c.641-36752G>C (C11orf65)	NP_001317297.1:n.641-36752G>C
NM_001351110.1:c.695-10531G>C (C11orf65)	NP_001338039.1:n.695-10531G>C
NM_001351110.2:c.695-10531G>C (C11orf65)	NP_001338039.1:n.695-10531G>C
NM_001351834.1:c.8499C>G (ATM)	NP_001338763.1:p.Tyr2833Ter
NM_001351834.2:c.8499C>G (ATM)	NP_001338763.1:p.Tyr2833Ter
NR_147053.2:n.2301+9092G>C (C11orf65)
NR_147053.3:n.2299+9092G>C (C11orf65)
ENST00000278616.8:c.8499C>G (ATM)	ENSP00000278616.4:p.Tyr2833Ter
ENST00000278616.9:c.8499C>G (ATM)	ENSP00000278616.4:p.Tyr2833Ter
ENST00000452508.6:c.8499C>G (ATM)	ENSP00000388058.2:p.Tyr2833Ter
ENST00000452508.7:c.8499C>G (ATM)	ENSP00000388058.2:p.Tyr2833Ter
ENST00000524755.5:c.227-10531G>C (C11orf65)
ENST00000524792.5:n.4714C>G (ATM)
ENST00000525729.5:c.641-36752G>C (C11orf65)	ENSP00000433395.1:n.641-36752G>C
ENST00000526725.1:n.272-5459G>C (C11orf65)
ENST00000527531.5:c.*1196+9092G>C (C11orf65)	ENSP00000431706.1:n.*1196+9092G>C
ENST00000527805.6:c.*3563C>G (ATM)	ENSP00000435747.2:n.*3563C>G
ENST00000615746.4:c.*1196+9092G>C (C11orf65)	ENSP00000483537.1:n.*1196+9092G>C
ENST00000638786.2:n.1197C>G (ATM)
ENST00000675595.1:c.*3634C>G (ATM)	ENSP00000502563.1:n.*3634C>G
ENST00000682286.1:n.3256C>G (ATM)
ENST00000682302.1:n.2917C>G (ATM)
ENST00000683174.1:n.9983C>G (ATM)
ENST00000683524.1:n.3723C>G (ATM)
ENST00000684152.1:n.3915C>G (ATM)
ENST00000684180.1:n.973C>G (ATM)
ENST00000684447.1:n.4992C>G (ATM)
ENST00000713593.1:c.*7970C>G (ATM)	ENSP00000518889.1:n.*7970C>G
XM_005271414.3:c.788-10531G>C (C11orf65)	XP_005271471.1:n.788-10531G>C
XM_005271414.4:c.788-10531G>C (C11orf65)	XP_005271471.1:n.788-10531G>C
XM_005271415.3:c.732-10531G>C (C11orf65)	XP_005271472.1:n.732-10531G>C
XM_005271415.4:c.732-10531G>C (C11orf65)	XP_005271472.1:n.732-10531G>C
XM_005271561.3:c.8499C>G (ATM)	XP_005271618.2:p.Tyr2833Ter
XM_005271562.3:c.8499C>G (ATM)	XP_005271619.2:p.Tyr2833Ter
XM_005271562.5:c.8499C>G (ATM)	XP_005271619.2:p.Tyr2833Ter
XM_006718843.2:c.8499C>G (ATM)	XP_006718906.1:p.Tyr2833Ter
XM_006718843.4:c.8499C>G (ATM)	XP_006718906.1:p.Tyr2833Ter
XM_006718845.1:c.4455C>G (ATM)	XP_006718908.1:p.Tyr1485Ter
XM_006718845.2:c.4455C>G (ATM)	XP_006718908.1:p.Tyr1485Ter
XM_011542640.1:c.788-5459G>C (C11orf65)	XP_011540942.1:n.788-5459G>C
XM_011542640.2:c.788-5459G>C (C11orf65)	XP_011540942.1:n.788-5459G>C
XM_011542643.1:c.732-5459G>C (C11orf65)	XP_011540945.1:n.732-5459G>C
XM_011542643.2:c.732-5459G>C (C11orf65)	XP_011540945.1:n.732-5459G>C
XM_011542840.1:c.8499C>G (ATM)	XP_011541142.1:p.Tyr2833Ter
XM_011542840.3:c.8499C>G (ATM)	XP_011541142.1:p.Tyr2833Ter
XM_011542841.1:c.8499C>G (ATM)	XP_011541143.1:p.Tyr2833Ter
XM_011542842.1:c.8334C>G (ATM)	XP_011541144.1:p.Tyr2778Ter
XM_011542842.3:c.8334C>G (ATM)	XP_011541144.1:p.Tyr2778Ter
XM_011542843.1:c.8499C>G (ATM)	XP_011541145.1:p.Tyr2833Ter
XM_011542843.2:c.8499C>G (ATM)	XP_011541145.1:p.Tyr2833Ter
XM_011542844.1:c.7455C>G (ATM)	XP_011541146.1:p.Tyr2485Ter
XM_011542844.3:c.7455C>G (ATM)	XP_011541146.1:p.Tyr2485Ter
XM_011542845.1:c.7191C>G (ATM)	XP_011541147.1:p.Tyr2397Ter
XM_011542845.2:c.7191C>G (ATM)	XP_011541147.1:p.Tyr2397Ter
XM_011542847.1:c.3570C>G (ATM)	XP_011541149.1:p.Tyr1190Ter
XM_017017247.1:c.904-5459G>C (C11orf65)	XP_016872736.1:n.904-5459G>C
XM_017017789.2:c.8499C>G (ATM)	XP_016873278.1:p.Tyr2833Ter
XM_017017790.2:c.8499C>G (ATM)	XP_016873279.1:p.Tyr2833Ter