Canonical Allele Identifier: CA382552315

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108317512C>T , CM000673.2:g.108317512C>T	GRCh38
NC_000011.9:g.108188239C>T , CM000673.1:g.108188239C>T	GRCh37
NC_000011.8:g.107693449C>T	NCBI36
NG_009830.1:g.99681C>T , LRG_135:g.99681C>T
NG_054724.1:g.157321G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.6338C>T (ATM) MANE Select	NP_000042.3:p.Thr2113Ile
ENST00000675843.1:c.6338C>T (ATM) MANE Select	ENSP00000501606.1:p.Thr2113Ile
NM_000051.3:c.6338C>T , LRG_135t1:c.6338C>T (ATM)	NP_000042.3:p.Thr2113Ile
NM_001330368.1:c.641-8441G>A (C11orf65)	NP_001317297.1:n.641-8441G>A
NM_001330368.2:c.641-8441G>A (C11orf65)	NP_001317297.1:n.641-8441G>A
NM_001351110.1:c.*39-8441G>A (C11orf65)	NP_001338039.1:n.*39-8441G>A
NM_001351110.2:c.*39-8441G>A (C11orf65)	NP_001338039.1:n.*39-8441G>A
NM_001351834.1:c.6338C>T (ATM)	NP_001338763.1:p.Thr2113Ile
NM_001351834.2:c.6338C>T (ATM)	NP_001338763.1:p.Thr2113Ile
ENST00000278616.8:c.6338C>T (ATM)	ENSP00000278616.4:p.Thr2113Ile
ENST00000278616.9:c.6338C>T (ATM)	ENSP00000278616.4:p.Thr2113Ile
ENST00000452508.6:c.6338C>T (ATM)	ENSP00000388058.2:p.Thr2113Ile
ENST00000452508.7:c.6338C>T (ATM)	ENSP00000388058.2:p.Thr2113Ile
ENST00000524792.5:n.2553C>T (ATM)
ENST00000525056.2:n.757C>T (ATM)
ENST00000525729.5:c.641-8441G>A (C11orf65)	ENSP00000433395.1:n.641-8441G>A
ENST00000527805.6:c.*1402C>T (ATM)	ENSP00000435747.2:n.*1402C>T
ENST00000533690.5:n.1742C>T (ATM)
ENST00000675595.1:c.*1402C>T (ATM)	ENSP00000502563.1:n.*1402C>T
ENST00000682286.1:n.1095C>T (ATM)
ENST00000682302.1:n.756C>T (ATM)
ENST00000683174.1:n.7822C>T (ATM)
ENST00000683524.1:n.1562C>T (ATM)
ENST00000684152.1:n.2052C>T (ATM)
ENST00000713593.1:c.*5809C>T (ATM)	ENSP00000518889.1:n.*5809C>T
XM_005271561.3:c.6338C>T (ATM)	XP_005271618.2:p.Thr2113Ile
XM_005271562.3:c.6338C>T (ATM)	XP_005271619.2:p.Thr2113Ile
XM_005271562.5:c.6338C>T (ATM)	XP_005271619.2:p.Thr2113Ile
XM_006718843.2:c.6338C>T (ATM)	XP_006718906.1:p.Thr2113Ile
XM_006718843.4:c.6338C>T (ATM)	XP_006718906.1:p.Thr2113Ile
XM_006718845.1:c.2294C>T (ATM)	XP_006718908.1:p.Thr765Ile
XM_006718845.2:c.2294C>T (ATM)	XP_006718908.1:p.Thr765Ile
XM_011542840.1:c.6338C>T (ATM)	XP_011541142.1:p.Thr2113Ile
XM_011542840.3:c.6338C>T (ATM)	XP_011541142.1:p.Thr2113Ile
XM_011542841.1:c.6338C>T (ATM)	XP_011541143.1:p.Thr2113Ile
XM_011542842.1:c.6173C>T (ATM)	XP_011541144.1:p.Thr2058Ile
XM_011542842.3:c.6173C>T (ATM)	XP_011541144.1:p.Thr2058Ile
XM_011542843.1:c.6338C>T (ATM)	XP_011541145.1:p.Thr2113Ile
XM_011542843.2:c.6338C>T (ATM)	XP_011541145.1:p.Thr2113Ile
XM_011542844.1:c.5294C>T (ATM)	XP_011541146.1:p.Thr1765Ile
XM_011542844.3:c.5294C>T (ATM)	XP_011541146.1:p.Thr1765Ile
XM_011542845.1:c.5030C>T (ATM)	XP_011541147.1:p.Thr1677Ile
XM_011542845.2:c.5030C>T (ATM)	XP_011541147.1:p.Thr1677Ile
XM_011542847.1:c.1409C>T (ATM)	XP_011541149.1:p.Thr470Ile
XM_017017789.2:c.6338C>T (ATM)	XP_016873278.1:p.Thr2113Ile
XM_017017790.2:c.6338C>T (ATM)	XP_016873279.1:p.Thr2113Ile
XM_017017791.1:c.6338C>T (ATM)	XP_016873280.1:p.Thr2113Ile