Canonical Allele Identifier: CA1998810973

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329221_108329223delinsTAA , CM000673.2:g.108329221_108329223delinsTAA	GRCh38
NC_000011.9:g.108199948_108199950delinsTAA , CM000673.1:g.108199948_108199950delinsTAA	GRCh37
NC_000011.8:g.107705158_107705160delinsTAA	NCBI36
NG_009830.1:g.111390_111392delinsTAA , LRG_135:g.111390_111392delinsTAA
NG_054724.1:g.145610_145612delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7290_7292delinsTAA (ATM)	ENSP00000388058.2:p.His2430=
ENST00000713593.1:c.*6761_*6763delinsTAA (ATM)	ENSP00000518889.1:n.*6761_*6763delinsTAA
ENST00000278616.9:c.7290_7292delinsTAA (ATM)	ENSP00000278616.4:p.His2430=
ENST00000525056.2:n.1709_1711delinsTAA (ATM)
ENST00000525537.3:n.247_249delinsTAA (ATM)
ENST00000638786.2:n.127_129delinsTAA (ATM)
ENST00000682286.1:n.2047_2049delinsTAA (ATM)
ENST00000682302.1:n.1708_1710delinsTAA (ATM)
ENST00000683174.1:n.8774_8776delinsTAA (ATM)
ENST00000683524.1:n.2514_2516delinsTAA (ATM)
ENST00000684152.1:n.3004_3006delinsTAA (ATM)
ENST00000684447.1:n.1753_1755delinsTAA (ATM)
ENST00000527805.6:c.*2354_*2356delinsTAA (ATM)	ENSP00000435747.2:n.*2354_*2356delinsTAA
ENST00000675595.1:c.*2425_*2427delinsTAA (ATM)	ENSP00000502563.1:n.*2425_*2427delinsTAA
ENST00000675843.1:c.7290_7292delinsTAA (ATM) MANE Select	ENSP00000501606.1:p.His2430=
ENST00000278616.8:c.7290_7292delinsTAA (ATM)	ENSP00000278616.4:p.His2430=
ENST00000452508.6:c.7290_7292delinsTAA (ATM)	ENSP00000388058.2:p.His2430=
ENST00000524792.5:n.3505_3507delinsTAA (ATM)
ENST00000525537.2:n.566_568delinsTAA (ATM)
ENST00000525729.5:c.641-20152_641-20150delinsTTA (C11orf65)	ENSP00000433395.1:n.641-20152_641-20150delinsTTA
ENST00000527389.2:n.315_317delinsTAA (ATM)
ENST00000533690.5:n.2694_2696delinsTAA (ATM)
NM_000051.3:c.7290_7292delinsTAA , LRG_135t1:c.7290_7292delinsTAA (ATM)	NP_000042.3:p.His2430=
XM_005271561.3:c.7290_7292delinsTAA (ATM)	XP_005271618.2:p.His2430=
XM_005271562.3:c.7290_7292delinsTAA (ATM)	XP_005271619.2:p.His2430=
XM_006718843.2:c.7290_7292delinsTAA (ATM)	XP_006718906.1:p.His2430=
XM_006718845.1:c.3246_3248delinsTAA (ATM)	XP_006718908.1:p.His1082=
XM_011542840.1:c.7290_7292delinsTAA (ATM)	XP_011541142.1:p.His2430=
XM_011542841.1:c.7290_7292delinsTAA (ATM)	XP_011541143.1:p.His2430=
XM_011542842.1:c.7125_7127delinsTAA (ATM)	XP_011541144.1:p.His2375=
XM_011542843.1:c.7290_7292delinsTAA (ATM)	XP_011541145.1:p.His2430=
XM_011542844.1:c.6246_6248delinsTAA (ATM)	XP_011541146.1:p.His2082=
XM_011542845.1:c.5982_5984delinsTAA (ATM)	XP_011541147.1:p.His1994=
XM_011542847.1:c.2361_2363delinsTAA (ATM)	XP_011541149.1:p.His787=
NM_001330368.1:c.641-20152_641-20150delinsTTA (C11orf65)	NP_001317297.1:n.641-20152_641-20150delinsTTA
NM_001351110.1:c.*38+5997_*38+5999delinsTTA (C11orf65)	NP_001338039.1:n.*38+5997_*38+5999delinsTTA
NM_001351834.1:c.7290_7292delinsTAA (ATM)	NP_001338763.1:p.His2430=
XM_005271562.5:c.7290_7292delinsTAA (ATM)	XP_005271619.2:p.His2430=
XM_006718843.4:c.7290_7292delinsTAA (ATM)	XP_006718906.1:p.His2430=
XM_006718845.2:c.3246_3248delinsTAA (ATM)	XP_006718908.1:p.His1082=
XM_011542840.3:c.7290_7292delinsTAA (ATM)	XP_011541142.1:p.His2430=
XM_011542842.3:c.7125_7127delinsTAA (ATM)	XP_011541144.1:p.His2375=
XM_011542843.2:c.7290_7292delinsTAA (ATM)	XP_011541145.1:p.His2430=
XM_011542844.3:c.6246_6248delinsTAA (ATM)	XP_011541146.1:p.His2082=
XM_011542845.2:c.5982_5984delinsTAA (ATM)	XP_011541147.1:p.His1994=
XM_017017789.2:c.7290_7292delinsTAA (ATM)	XP_016873278.1:p.His2430=
XM_017017790.2:c.7290_7292delinsTAA (ATM)	XP_016873279.1:p.His2430=
NM_001330368.2:c.641-20152_641-20150delinsTTA (C11orf65)	NP_001317297.1:n.641-20152_641-20150delinsTTA
NM_001351110.2:c.*38+5997_*38+5999delinsTTA (C11orf65)	NP_001338039.1:n.*38+5997_*38+5999delinsTTA
NM_001351834.2:c.7290_7292delinsTAA (ATM)	NP_001338763.1:p.His2430=
NM_000051.4:c.7290_7292delinsTAA (ATM) MANE Select	NP_000042.3:p.His2430=