Canonical Allele Identifier: CA2580615053

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1537229
• ClinVar RCV Id: RCV002157121
• dbSNP Id: rs2136330085

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326040_108326041del , CM000673.2:g.108326040_108326041del	GRCh38
NC_000011.9:g.108196767_108196768del , CM000673.1:g.108196767_108196768del	GRCh37
NC_000011.8:g.107701977_107701978del	NCBI36
NG_009830.1:g.108209_108210del , LRG_135:g.108209_108210del
NG_054724.1:g.148794_148795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6808-18_6808-17del (ATM)	ENSP00000388058.2:n.6808-18_6808-17del
ENST00000713593.1:c.*6279-18_*6279-17del (ATM)	ENSP00000518889.1:n.*6279-18_*6279-17del
ENST00000278616.9:c.6808-18_6808-17del (ATM)	ENSP00000278616.4:n.6808-18_6808-17del
ENST00000525056.2:n.1227-18_1227-17del (ATM)
ENST00000682286.1:n.1565-18_1565-17del (ATM)
ENST00000682302.1:n.1226-18_1226-17del (ATM)
ENST00000683174.1:n.8292-18_8292-17del (ATM)
ENST00000683524.1:n.2032-18_2032-17del (ATM)
ENST00000684152.1:n.2522-18_2522-17del (ATM)
ENST00000527805.6:c.*1872-18_*1872-17del (ATM)	ENSP00000435747.2:n.*1872-18_*1872-17del
ENST00000675595.1:c.*1943-18_*1943-17del (ATM)	ENSP00000502563.1:n.*1943-18_*1943-17del
ENST00000675843.1:c.6808-18_6808-17del (ATM) MANE Select	ENSP00000501606.1:n.6808-18_6808-17del
ENST00000278616.8:c.6808-18_6808-17del (ATM)	ENSP00000278616.4:n.6808-18_6808-17del
ENST00000452508.6:c.6808-18_6808-17del (ATM)	ENSP00000388058.2:n.6808-18_6808-17del
ENST00000524792.5:n.3023-18_3023-17del (ATM)
ENST00000525729.5:c.641-16968_641-16967del (C11orf65)	ENSP00000433395.1:n.641-16968_641-16967del
ENST00000533690.5:n.2212-18_2212-17del (ATM)
NM_000051.3:c.6808-18_6808-17del , LRG_135t1:c.6808-18_6808-17del (ATM)	NP_000042.3:n.6808-18_6808-17del
XM_005271561.3:c.6808-18_6808-17del (ATM)	XP_005271618.2:n.6808-18_6808-17del
XM_005271562.3:c.6808-18_6808-17del (ATM)	XP_005271619.2:n.6808-18_6808-17del
XM_006718843.2:c.6808-18_6808-17del (ATM)	XP_006718906.1:n.6808-18_6808-17del
XM_006718845.1:c.2764-18_2764-17del (ATM)	XP_006718908.1:n.2764-18_2764-17del
XM_011542840.1:c.6808-18_6808-17del (ATM)	XP_011541142.1:n.6808-18_6808-17del
XM_011542841.1:c.6808-18_6808-17del (ATM)	XP_011541143.1:n.6808-18_6808-17del
XM_011542842.1:c.6643-18_6643-17del (ATM)	XP_011541144.1:n.6643-18_6643-17del
XM_011542843.1:c.6808-18_6808-17del (ATM)	XP_011541145.1:n.6808-18_6808-17del
XM_011542844.1:c.5764-18_5764-17del (ATM)	XP_011541146.1:n.5764-18_5764-17del
XM_011542845.1:c.5500-18_5500-17del (ATM)	XP_011541147.1:n.5500-18_5500-17del
XM_011542847.1:c.1879-18_1879-17del (ATM)	XP_011541149.1:n.1879-18_1879-17del
NM_001330368.1:c.641-16968_641-16967del (C11orf65)	NP_001317297.1:n.641-16968_641-16967del
NM_001351110.1:c.*38+9181_*38+9182del (C11orf65)	NP_001338039.1:n.*38+9181_*38+9182del
NM_001351834.1:c.6808-18_6808-17del (ATM)	NP_001338763.1:n.6808-18_6808-17del
XM_005271562.5:c.6808-18_6808-17del (ATM)	XP_005271619.2:n.6808-18_6808-17del
XM_006718843.4:c.6808-18_6808-17del (ATM)	XP_006718906.1:n.6808-18_6808-17del
XM_006718845.2:c.2764-18_2764-17del (ATM)	XP_006718908.1:n.2764-18_2764-17del
XM_011542840.3:c.6808-18_6808-17del (ATM)	XP_011541142.1:n.6808-18_6808-17del
XM_011542842.3:c.6643-18_6643-17del (ATM)	XP_011541144.1:n.6643-18_6643-17del
XM_011542843.2:c.6808-18_6808-17del (ATM)	XP_011541145.1:n.6808-18_6808-17del
XM_011542844.3:c.5764-18_5764-17del (ATM)	XP_011541146.1:n.5764-18_5764-17del
XM_011542845.2:c.5500-18_5500-17del (ATM)	XP_011541147.1:n.5500-18_5500-17del
XM_017017789.2:c.6808-18_6808-17del (ATM)	XP_016873278.1:n.6808-18_6808-17del
XM_017017790.2:c.6808-18_6808-17del (ATM)	XP_016873279.1:n.6808-18_6808-17del
NM_001330368.2:c.641-16968_641-16967del (C11orf65)	NP_001317297.1:n.641-16968_641-16967del
NM_001351110.2:c.*38+9181_*38+9182del (C11orf65)	NP_001338039.1:n.*38+9181_*38+9182del
NM_001351834.2:c.6808-18_6808-17del (ATM)	NP_001338763.1:n.6808-18_6808-17del
NM_000051.4:c.6808-18_6808-17del (ATM) MANE Select	NP_000042.3:n.6808-18_6808-17del