Canonical Allele Identifier: CA601725655

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1316006415
• gnomAD v2: 11-108191986-CTCT-C
• gnomAD v3: 11-108321259-CTCT-C
• gnomAD v4: 11-108321259-CTCT-C
• MyVariant Identifiers: chr11:g.108191987_108191989del (hg19) ; chr11:g.108321260_108321262del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321264_108321266del , CM000673.2:g.108321264_108321266del	GRCh38
NC_000011.9:g.108191991_108191993del , CM000673.1:g.108191991_108191993del	GRCh37
NC_000011.8:g.107697201_107697203del	NCBI36
NG_009830.1:g.103433_103435del , LRG_135:g.103433_103435del
NG_054724.1:g.153571_153573del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6453-37_6453-35del (ATM)	ENSP00000388058.2:n.6453-37_6453-35del
ENST00000713593.1:c.*5924-37_*5924-35del (ATM)	ENSP00000518889.1:n.*5924-37_*5924-35del
ENST00000278616.9:c.6453-37_6453-35del (ATM)	ENSP00000278616.4:n.6453-37_6453-35del
ENST00000525056.2:n.872-37_872-35del (ATM)
ENST00000682286.1:n.1210-37_1210-35del (ATM)
ENST00000682302.1:n.871-37_871-35del (ATM)
ENST00000683174.1:n.7937-37_7937-35del (ATM)
ENST00000683524.1:n.1677-37_1677-35del (ATM)
ENST00000684152.1:n.2167-37_2167-35del (ATM)
ENST00000527805.6:c.*1517-37_*1517-35del (ATM)	ENSP00000435747.2:n.*1517-37_*1517-35del
ENST00000675595.1:c.*1588-37_*1588-35del (ATM)	ENSP00000502563.1:n.*1588-37_*1588-35del
ENST00000675843.1:c.6453-37_6453-35del (ATM) MANE Select	ENSP00000501606.1:n.6453-37_6453-35del
ENST00000278616.8:c.6453-37_6453-35del (ATM)	ENSP00000278616.4:n.6453-37_6453-35del
ENST00000452508.6:c.6453-37_6453-35del (ATM)	ENSP00000388058.2:n.6453-37_6453-35del
ENST00000524792.5:n.2668-37_2668-35del (ATM)
ENST00000525729.5:c.641-12191_641-12189del (C11orf65)	ENSP00000433395.1:n.641-12191_641-12189del
ENST00000533690.5:n.1857-37_1857-35del (ATM)
NM_000051.3:c.6453-37_6453-35del , LRG_135t1:c.6453-37_6453-35del (ATM)	NP_000042.3:n.6453-37_6453-35del
XM_005271561.3:c.6453-37_6453-35del (ATM)	XP_005271618.2:n.6453-37_6453-35del
XM_005271562.3:c.6453-37_6453-35del (ATM)	XP_005271619.2:n.6453-37_6453-35del
XM_006718843.2:c.6453-37_6453-35del (ATM)	XP_006718906.1:n.6453-37_6453-35del
XM_006718845.1:c.2409-37_2409-35del (ATM)	XP_006718908.1:n.2409-37_2409-35del
XM_011542840.1:c.6453-37_6453-35del (ATM)	XP_011541142.1:n.6453-37_6453-35del
XM_011542841.1:c.6453-37_6453-35del (ATM)	XP_011541143.1:n.6453-37_6453-35del
XM_011542842.1:c.6288-37_6288-35del (ATM)	XP_011541144.1:n.6288-37_6288-35del
XM_011542843.1:c.6453-37_6453-35del (ATM)	XP_011541145.1:n.6453-37_6453-35del
XM_011542844.1:c.5409-37_5409-35del (ATM)	XP_011541146.1:n.5409-37_5409-35del
XM_011542845.1:c.5145-37_5145-35del (ATM)	XP_011541147.1:n.5145-37_5145-35del
XM_011542847.1:c.1524-37_1524-35del (ATM)	XP_011541149.1:n.1524-37_1524-35del
NM_001330368.1:c.641-12191_641-12189del (C11orf65)	NP_001317297.1:n.641-12191_641-12189del
NM_001351110.1:c.*39-12191_*39-12189del (C11orf65)	NP_001338039.1:n.*39-12191_*39-12189del
NM_001351834.1:c.6453-37_6453-35del (ATM)	NP_001338763.1:n.6453-37_6453-35del
XM_005271562.5:c.6453-37_6453-35del (ATM)	XP_005271619.2:n.6453-37_6453-35del
XM_006718843.4:c.6453-37_6453-35del (ATM)	XP_006718906.1:n.6453-37_6453-35del
XM_006718845.2:c.2409-37_2409-35del (ATM)	XP_006718908.1:n.2409-37_2409-35del
XM_011542840.3:c.6453-37_6453-35del (ATM)	XP_011541142.1:n.6453-37_6453-35del
XM_011542842.3:c.6288-37_6288-35del (ATM)	XP_011541144.1:n.6288-37_6288-35del
XM_011542843.2:c.6453-37_6453-35del (ATM)	XP_011541145.1:n.6453-37_6453-35del
XM_011542844.3:c.5409-37_5409-35del (ATM)	XP_011541146.1:n.5409-37_5409-35del
XM_011542845.2:c.5145-37_5145-35del (ATM)	XP_011541147.1:n.5145-37_5145-35del
XM_017017789.2:c.6453-37_6453-35del (ATM)	XP_016873278.1:n.6453-37_6453-35del
XM_017017790.2:c.6453-37_6453-35del (ATM)	XP_016873279.1:n.6453-37_6453-35del
XM_017017791.1:c.6453-12_6453-10del (ATM)	XP_016873280.1:n.6453-12_6453-10del
NM_001330368.2:c.641-12191_641-12189del (C11orf65)	NP_001317297.1:n.641-12191_641-12189del
NM_001351110.2:c.*39-12191_*39-12189del (C11orf65)	NP_001338039.1:n.*39-12191_*39-12189del
NM_001351834.2:c.6453-37_6453-35del (ATM)	NP_001338763.1:n.6453-37_6453-35del
NM_000051.4:c.6453-37_6453-35del (ATM) MANE Select	NP_000042.3:n.6453-37_6453-35del