Canonical Allele Identifier: CA1998808529

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2086125008

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330320_108330321dup , CM000673.2:g.108330320_108330321dup	GRCh38
NC_000011.9:g.108201047_108201048dup , CM000673.1:g.108201047_108201048dup	GRCh37
NC_000011.8:g.107706257_107706258dup	NCBI36
NG_009830.1:g.112489_112490dup , LRG_135:g.112489_112490dup
NG_054724.1:g.144512_144513dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7414_7415dup (ATM)	ENSP00000388058.2:p.Asn2472LysfsTer5
ENST00000713593.1:c.*6885_*6886dup (ATM)	ENSP00000518889.1:n.*6885_*6886dup
ENST00000278616.9:c.7414_7415dup (ATM)	ENSP00000278616.4:p.Asn2472LysfsTer5
ENST00000525056.2:n.1833_1834dup (ATM)
ENST00000525537.3:n.371_372dup (ATM)
ENST00000638786.2:n.251_252dup (ATM)
ENST00000682286.1:n.2171_2172dup (ATM)
ENST00000682302.1:n.1832_1833dup (ATM)
ENST00000683174.1:n.8898_8899dup (ATM)
ENST00000683524.1:n.2638_2639dup (ATM)
ENST00000684152.1:n.3128_3129dup (ATM)
ENST00000684447.1:n.1877_1878dup (ATM)
ENST00000527805.6:c.*2478_*2479dup (ATM)	ENSP00000435747.2:n.*2478_*2479dup
ENST00000675595.1:c.*2549_*2550dup (ATM)	ENSP00000502563.1:n.*2549_*2550dup
ENST00000675843.1:c.7414_7415dup (ATM) MANE Select	ENSP00000501606.1:p.Asn2472LysfsTer5
ENST00000278616.8:c.7414_7415dup (ATM)	ENSP00000278616.4:p.Asn2472LysfsTer5
ENST00000452508.6:c.7414_7415dup (ATM)	ENSP00000388058.2:p.Asn2472LysfsTer5
ENST00000524792.5:n.3629_3630dup (ATM)
ENST00000525729.5:c.641-21250_641-21249dup (C11orf65)	ENSP00000433395.1:n.641-21250_641-21249dup
ENST00000533690.5:n.2818_2819dup (ATM)
NM_000051.3:c.7414_7415dup , LRG_135t1:c.7414_7415dup (ATM)	NP_000042.3:p.Asn2472LysfsTer5
XM_005271561.3:c.7414_7415dup (ATM)	XP_005271618.2:p.Asn2472LysfsTer5
XM_005271562.3:c.7414_7415dup (ATM)	XP_005271619.2:p.Asn2472LysfsTer5
XM_006718843.2:c.7414_7415dup (ATM)	XP_006718906.1:p.Asn2472LysfsTer5
XM_006718845.1:c.3370_3371dup (ATM)	XP_006718908.1:p.Asn1124LysfsTer5
XM_011542840.1:c.7414_7415dup (ATM)	XP_011541142.1:p.Asn2472LysfsTer5
XM_011542841.1:c.7414_7415dup (ATM)	XP_011541143.1:p.Asn2472LysfsTer5
XM_011542842.1:c.7249_7250dup (ATM)	XP_011541144.1:p.Asn2417LysfsTer5
XM_011542843.1:c.7414_7415dup (ATM)	XP_011541145.1:p.Asn2472LysfsTer5
XM_011542844.1:c.6370_6371dup (ATM)	XP_011541146.1:p.Asn2124LysfsTer5
XM_011542845.1:c.6106_6107dup (ATM)	XP_011541147.1:p.Asn2036LysfsTer5
XM_011542847.1:c.2485_2486dup (ATM)	XP_011541149.1:p.Asn829LysfsTer5
NM_001330368.1:c.641-21250_641-21249dup (C11orf65)	NP_001317297.1:n.641-21250_641-21249dup
NM_001351110.1:c.*38+4899_*38+4900dup (C11orf65)	NP_001338039.1:n.*38+4899_*38+4900dup
NM_001351834.1:c.7414_7415dup (ATM)	NP_001338763.1:p.Asn2472LysfsTer5
XM_005271562.5:c.7414_7415dup (ATM)	XP_005271619.2:p.Asn2472LysfsTer5
XM_006718843.4:c.7414_7415dup (ATM)	XP_006718906.1:p.Asn2472LysfsTer5
XM_006718845.2:c.3370_3371dup (ATM)	XP_006718908.1:p.Asn1124LysfsTer5
XM_011542840.3:c.7414_7415dup (ATM)	XP_011541142.1:p.Asn2472LysfsTer5
XM_011542842.3:c.7249_7250dup (ATM)	XP_011541144.1:p.Asn2417LysfsTer5
XM_011542843.2:c.7414_7415dup (ATM)	XP_011541145.1:p.Asn2472LysfsTer5
XM_011542844.3:c.6370_6371dup (ATM)	XP_011541146.1:p.Asn2124LysfsTer5
XM_011542845.2:c.6106_6107dup (ATM)	XP_011541147.1:p.Asn2036LysfsTer5
XM_017017789.2:c.7414_7415dup (ATM)	XP_016873278.1:p.Asn2472LysfsTer5
XM_017017790.2:c.7414_7415dup (ATM)	XP_016873279.1:p.Asn2472LysfsTer5
NM_001330368.2:c.641-21250_641-21249dup (C11orf65)	NP_001317297.1:n.641-21250_641-21249dup
NM_001351110.2:c.*38+4899_*38+4900dup (C11orf65)	NP_001338039.1:n.*38+4899_*38+4900dup
NM_001351834.2:c.7414_7415dup (ATM)	NP_001338763.1:p.Asn2472LysfsTer5
NM_000051.4:c.7414_7415dup (ATM) MANE Select	NP_000042.3:p.Asn2472LysfsTer5