Canonical Allele Identifier: CA1998808422

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326158_108326159delinsAG , CM000673.2:g.108326158_108326159delinsAG	GRCh38
NC_000011.9:g.108196885_108196886delinsAG , CM000673.1:g.108196885_108196886delinsAG	GRCh37
NC_000011.8:g.107702095_107702096delinsAG	NCBI36
NG_009830.1:g.108327_108328delinsAG , LRG_135:g.108327_108328delinsAG
NG_054724.1:g.148674_148675delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6908_6909delinsAG (ATM)	ENSP00000388058.2:p.Lys2303=
ENST00000713593.1:c.*6379_*6380delinsAG (ATM)	ENSP00000518889.1:n.*6379_*6380delinsAG
ENST00000278616.9:c.6908_6909delinsAG (ATM)	ENSP00000278616.4:p.Lys2303=
ENST00000525056.2:n.1327_1328delinsAG (ATM)
ENST00000682286.1:n.1665_1666delinsAG (ATM)
ENST00000682302.1:n.1326_1327delinsAG (ATM)
ENST00000683174.1:n.8392_8393delinsAG (ATM)
ENST00000683524.1:n.2132_2133delinsAG (ATM)
ENST00000684152.1:n.2622_2623delinsAG (ATM)
ENST00000527805.6:c.*1972_*1973delinsAG (ATM)	ENSP00000435747.2:n.*1972_*1973delinsAG
ENST00000675595.1:c.*2043_*2044delinsAG (ATM)	ENSP00000502563.1:n.*2043_*2044delinsAG
ENST00000675843.1:c.6908_6909delinsAG (ATM) MANE Select	ENSP00000501606.1:p.Lys2303=
ENST00000278616.8:c.6908_6909delinsAG (ATM)	ENSP00000278616.4:p.Lys2303=
ENST00000452508.6:c.6908_6909delinsAG (ATM)	ENSP00000388058.2:p.Lys2303=
ENST00000524792.5:n.3123_3124delinsAG (ATM)
ENST00000525729.5:c.641-17088_641-17087delinsCT (C11orf65)	ENSP00000433395.1:n.641-17088_641-17087delinsCT
ENST00000533690.5:n.2312_2313delinsAG (ATM)
NM_000051.3:c.6908_6909delinsAG , LRG_135t1:c.6908_6909delinsAG (ATM)	NP_000042.3:p.Lys2303=
XM_005271561.3:c.6908_6909delinsAG (ATM)	XP_005271618.2:p.Lys2303=
XM_005271562.3:c.6908_6909delinsAG (ATM)	XP_005271619.2:p.Lys2303=
XM_006718843.2:c.6908_6909delinsAG (ATM)	XP_006718906.1:p.Lys2303=
XM_006718845.1:c.2864_2865delinsAG (ATM)	XP_006718908.1:p.Lys955=
XM_011542840.1:c.6908_6909delinsAG (ATM)	XP_011541142.1:p.Lys2303=
XM_011542841.1:c.6908_6909delinsAG (ATM)	XP_011541143.1:p.Lys2303=
XM_011542842.1:c.6743_6744delinsAG (ATM)	XP_011541144.1:p.Lys2248=
XM_011542843.1:c.6908_6909delinsAG (ATM)	XP_011541145.1:p.Lys2303=
XM_011542844.1:c.5864_5865delinsAG (ATM)	XP_011541146.1:p.Lys1955=
XM_011542845.1:c.5600_5601delinsAG (ATM)	XP_011541147.1:p.Lys1867=
XM_011542847.1:c.1979_1980delinsAG (ATM)	XP_011541149.1:p.Lys660=
NM_001330368.1:c.641-17088_641-17087delinsCT (C11orf65)	NP_001317297.1:n.641-17088_641-17087delinsCT
NM_001351110.1:c.*38+9061_*38+9062delinsCT (C11orf65)	NP_001338039.1:n.*38+9061_*38+9062delinsCT
NM_001351834.1:c.6908_6909delinsAG (ATM)	NP_001338763.1:p.Lys2303=
XM_005271562.5:c.6908_6909delinsAG (ATM)	XP_005271619.2:p.Lys2303=
XM_006718843.4:c.6908_6909delinsAG (ATM)	XP_006718906.1:p.Lys2303=
XM_006718845.2:c.2864_2865delinsAG (ATM)	XP_006718908.1:p.Lys955=
XM_011542840.3:c.6908_6909delinsAG (ATM)	XP_011541142.1:p.Lys2303=
XM_011542842.3:c.6743_6744delinsAG (ATM)	XP_011541144.1:p.Lys2248=
XM_011542843.2:c.6908_6909delinsAG (ATM)	XP_011541145.1:p.Lys2303=
XM_011542844.3:c.5864_5865delinsAG (ATM)	XP_011541146.1:p.Lys1955=
XM_011542845.2:c.5600_5601delinsAG (ATM)	XP_011541147.1:p.Lys1867=
XM_017017789.2:c.6908_6909delinsAG (ATM)	XP_016873278.1:p.Lys2303=
XM_017017790.2:c.6908_6909delinsAG (ATM)	XP_016873279.1:p.Lys2303=
NM_001330368.2:c.641-17088_641-17087delinsCT (C11orf65)	NP_001317297.1:n.641-17088_641-17087delinsCT
NM_001351110.2:c.*38+9061_*38+9062delinsCT (C11orf65)	NP_001338039.1:n.*38+9061_*38+9062delinsCT
NM_001351834.2:c.6908_6909delinsAG (ATM)	NP_001338763.1:p.Lys2303=
NM_000051.4:c.6908_6909delinsAG (ATM) MANE Select	NP_000042.3:p.Lys2303=