Canonical Allele Identifier: CA2615859730

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108327397-CATATAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327399_108327404del , CM000673.2:g.108327399_108327404del	GRCh38
NC_000011.9:g.108198126_108198131del , CM000673.1:g.108198126_108198131del	GRCh37
NC_000011.8:g.107703336_107703341del	NCBI36
NG_009830.1:g.109568_109573del , LRG_135:g.109568_109573del
NG_054724.1:g.147430_147435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6976-246_6976-241del (ATM)	ENSP00000388058.2:n.6976-246_6976-241del
ENST00000713593.1:c.*6447-246_*6447-241del (ATM)	ENSP00000518889.1:n.*6447-246_*6447-241del
ENST00000278616.9:c.6976-246_6976-241del (ATM)	ENSP00000278616.4:n.6976-246_6976-241del
ENST00000525056.2:n.1395-246_1395-241del (ATM)
ENST00000682286.1:n.1733-246_1733-241del (ATM)
ENST00000682302.1:n.1394-246_1394-241del (ATM)
ENST00000683174.1:n.8460-246_8460-241del (ATM)
ENST00000683524.1:n.2200-246_2200-241del (ATM)
ENST00000684152.1:n.2690-246_2690-241del (ATM)
ENST00000684447.1:n.1193_1198del (ATM)
ENST00000527805.6:c.*2040-246_*2040-241del (ATM)	ENSP00000435747.2:n.*2040-246_*2040-241del
ENST00000675595.1:c.*2111-246_*2111-241del (ATM)	ENSP00000502563.1:n.*2111-246_*2111-241del
ENST00000675843.1:c.6976-246_6976-241del (ATM) MANE Select	ENSP00000501606.1:n.6976-246_6976-241del
ENST00000278616.8:c.6976-246_6976-241del (ATM)	ENSP00000278616.4:n.6976-246_6976-241del
ENST00000452508.6:c.6976-246_6976-241del (ATM)	ENSP00000388058.2:n.6976-246_6976-241del
ENST00000524792.5:n.3191-246_3191-241del (ATM)
ENST00000525537.2:n.6_11del (ATM)
ENST00000525729.5:c.641-18332_641-18327del (C11orf65)	ENSP00000433395.1:n.641-18332_641-18327del
ENST00000533690.5:n.2380-246_2380-241del (ATM)
NM_000051.3:c.6976-246_6976-241del , LRG_135t1:c.6976-246_6976-241del (ATM)	NP_000042.3:n.6976-246_6976-241del
XM_005271561.3:c.6976-246_6976-241del (ATM)	XP_005271618.2:n.6976-246_6976-241del
XM_005271562.3:c.6976-246_6976-241del (ATM)	XP_005271619.2:n.6976-246_6976-241del
XM_006718843.2:c.6976-246_6976-241del (ATM)	XP_006718906.1:n.6976-246_6976-241del
XM_006718845.1:c.2932-246_2932-241del (ATM)	XP_006718908.1:n.2932-246_2932-241del
XM_011542840.1:c.6976-246_6976-241del (ATM)	XP_011541142.1:n.6976-246_6976-241del
XM_011542841.1:c.6976-246_6976-241del (ATM)	XP_011541143.1:n.6976-246_6976-241del
XM_011542842.1:c.6811-246_6811-241del (ATM)	XP_011541144.1:n.6811-246_6811-241del
XM_011542843.1:c.6976-246_6976-241del (ATM)	XP_011541145.1:n.6976-246_6976-241del
XM_011542844.1:c.5932-246_5932-241del (ATM)	XP_011541146.1:n.5932-246_5932-241del
XM_011542845.1:c.5668-246_5668-241del (ATM)	XP_011541147.1:n.5668-246_5668-241del
XM_011542847.1:c.2047-246_2047-241del (ATM)	XP_011541149.1:n.2047-246_2047-241del
NM_001330368.1:c.641-18332_641-18327del (C11orf65)	NP_001317297.1:n.641-18332_641-18327del
NM_001351110.1:c.*38+7817_*38+7822del (C11orf65)	NP_001338039.1:n.*38+7817_*38+7822del
NM_001351834.1:c.6976-246_6976-241del (ATM)	NP_001338763.1:n.6976-246_6976-241del
XM_005271562.5:c.6976-246_6976-241del (ATM)	XP_005271619.2:n.6976-246_6976-241del
XM_006718843.4:c.6976-246_6976-241del (ATM)	XP_006718906.1:n.6976-246_6976-241del
XM_006718845.2:c.2932-246_2932-241del (ATM)	XP_006718908.1:n.2932-246_2932-241del
XM_011542840.3:c.6976-246_6976-241del (ATM)	XP_011541142.1:n.6976-246_6976-241del
XM_011542842.3:c.6811-246_6811-241del (ATM)	XP_011541144.1:n.6811-246_6811-241del
XM_011542843.2:c.6976-246_6976-241del (ATM)	XP_011541145.1:n.6976-246_6976-241del
XM_011542844.3:c.5932-246_5932-241del (ATM)	XP_011541146.1:n.5932-246_5932-241del
XM_011542845.2:c.5668-246_5668-241del (ATM)	XP_011541147.1:n.5668-246_5668-241del
XM_017017789.2:c.6976-246_6976-241del (ATM)	XP_016873278.1:n.6976-246_6976-241del
XM_017017790.2:c.6976-246_6976-241del (ATM)	XP_016873279.1:n.6976-246_6976-241del
NM_001330368.2:c.641-18332_641-18327del (C11orf65)	NP_001317297.1:n.641-18332_641-18327del
NM_001351110.2:c.*38+7817_*38+7822del (C11orf65)	NP_001338039.1:n.*38+7817_*38+7822del
NM_001351834.2:c.6976-246_6976-241del (ATM)	NP_001338763.1:n.6976-246_6976-241del
NM_000051.4:c.6976-246_6976-241del (ATM) MANE Select	NP_000042.3:n.6976-246_6976-241del