Canonical Allele Identifier: CA2695215480

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327656_108327657insT , CM000673.2:g.108327656_108327657insT	GRCh38
NC_000011.9:g.108198383_108198384insT , CM000673.1:g.108198383_108198384insT	GRCh37
NC_000011.8:g.107703593_107703594insT	NCBI36
NG_009830.1:g.109825_109826insT , LRG_135:g.109825_109826insT
NG_054724.1:g.147176_147177insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6987_6988insT (ATM)	ENSP00000388058.2:p.Leu2330SerfsTer?
ENST00000713593.1:c.*6458_*6459insT (ATM)	ENSP00000518889.1:n.*6458_*6459insT
ENST00000278616.9:c.6987_6988insT (ATM)	ENSP00000278616.4:p.Leu2330SerfsTer?
ENST00000525056.2:n.1406_1407insT (ATM)
ENST00000682286.1:n.1744_1745insT (ATM)
ENST00000682302.1:n.1405_1406insT (ATM)
ENST00000683174.1:n.8471_8472insT (ATM)
ENST00000683524.1:n.2211_2212insT (ATM)
ENST00000684152.1:n.2701_2702insT (ATM)
ENST00000684447.1:n.1450_1451insT (ATM)
ENST00000527805.6:c.*2051_*2052insT (ATM)	ENSP00000435747.2:n.*2051_*2052insT
ENST00000675595.1:c.*2122_*2123insT (ATM)	ENSP00000502563.1:n.*2122_*2123insT
ENST00000675843.1:c.6987_6988insT (ATM) MANE Select	ENSP00000501606.1:p.Leu2330SerfsTer?
ENST00000278616.8:c.6987_6988insT (ATM)	ENSP00000278616.4:p.Leu2330SerfsTer?
ENST00000452508.6:c.6987_6988insT (ATM)	ENSP00000388058.2:p.Leu2330SerfsTer?
ENST00000524792.5:n.3202_3203insT (ATM)
ENST00000525537.2:n.263_264insT (ATM)
ENST00000525729.5:c.641-18586_641-18585insA (C11orf65)	ENSP00000433395.1:n.641-18586_641-18585insA
ENST00000527389.2:n.12_13insT (ATM)
ENST00000533690.5:n.2391_2392insT (ATM)
NM_000051.3:c.6987_6988insT , LRG_135t1:c.6987_6988insT (ATM)	NP_000042.3:p.Leu2330SerfsTer?
XM_005271561.3:c.6987_6988insT (ATM)	XP_005271618.2:p.Leu2330SerfsTer?
XM_005271562.3:c.6987_6988insT (ATM)	XP_005271619.2:p.Leu2330SerfsTer?
XM_006718843.2:c.6987_6988insT (ATM)	XP_006718906.1:p.Leu2330SerfsTer?
XM_006718845.1:c.2943_2944insT (ATM)	XP_006718908.1:p.Leu982SerfsTer?
XM_011542840.1:c.6987_6988insT (ATM)	XP_011541142.1:p.Leu2330SerfsTer?
XM_011542841.1:c.6987_6988insT (ATM)	XP_011541143.1:p.Leu2330SerfsTer?
XM_011542842.1:c.6822_6823insT (ATM)	XP_011541144.1:p.Leu2275SerfsTer?
XM_011542843.1:c.6987_6988insT (ATM)	XP_011541145.1:p.Leu2330SerfsTer?
XM_011542844.1:c.5943_5944insT (ATM)	XP_011541146.1:p.Leu1982SerfsTer?
XM_011542845.1:c.5679_5680insT (ATM)	XP_011541147.1:p.Leu1894SerfsTer?
XM_011542847.1:c.2058_2059insT (ATM)	XP_011541149.1:p.Leu687SerfsTer?
NM_001330368.1:c.641-18586_641-18585insA (C11orf65)	NP_001317297.1:n.641-18586_641-18585insA
NM_001351110.1:c.*38+7563_*38+7564insA (C11orf65)	NP_001338039.1:n.*38+7563_*38+7564insA
NM_001351834.1:c.6987_6988insT (ATM)	NP_001338763.1:p.Leu2330SerfsTer?
XM_005271562.5:c.6987_6988insT (ATM)	XP_005271619.2:p.Leu2330SerfsTer?
XM_006718843.4:c.6987_6988insT (ATM)	XP_006718906.1:p.Leu2330SerfsTer?
XM_006718845.2:c.2943_2944insT (ATM)	XP_006718908.1:p.Leu982SerfsTer?
XM_011542840.3:c.6987_6988insT (ATM)	XP_011541142.1:p.Leu2330SerfsTer?
XM_011542842.3:c.6822_6823insT (ATM)	XP_011541144.1:p.Leu2275SerfsTer?
XM_011542843.2:c.6987_6988insT (ATM)	XP_011541145.1:p.Leu2330SerfsTer?
XM_011542844.3:c.5943_5944insT (ATM)	XP_011541146.1:p.Leu1982SerfsTer?
XM_011542845.2:c.5679_5680insT (ATM)	XP_011541147.1:p.Leu1894SerfsTer?
XM_017017789.2:c.6987_6988insT (ATM)	XP_016873278.1:p.Leu2330SerfsTer?
XM_017017790.2:c.6987_6988insT (ATM)	XP_016873279.1:p.Leu2330SerfsTer?
NM_001330368.2:c.641-18586_641-18585insA (C11orf65)	NP_001317297.1:n.641-18586_641-18585insA
NM_001351110.2:c.*38+7563_*38+7564insA (C11orf65)	NP_001338039.1:n.*38+7563_*38+7564insA
NM_001351834.2:c.6987_6988insT (ATM)	NP_001338763.1:p.Leu2330SerfsTer?
NM_000051.4:c.6987_6988insT (ATM) MANE Select	NP_000042.3:p.Leu2330SerfsTer?