Canonical Allele Identifier: CA2615860229

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108327800-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327800_108327801insCT , CM000673.2:g.108327800_108327801insCT	GRCh38
NC_000011.9:g.108198527_108198528insCT , CM000673.1:g.108198527_108198528insCT	GRCh37
NC_000011.8:g.107703737_107703738insCT	NCBI36
NG_009830.1:g.109969_109970insCT , LRG_135:g.109969_109970insCT
NG_054724.1:g.147032_147033insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7089+42_7089+43insCT (ATM)	ENSP00000388058.2:n.7089+42_7089+43insCT
ENST00000713593.1:c.*6560+42_*6560+43insCT (ATM)	ENSP00000518889.1:n.*6560+42_*6560+43insCT
ENST00000278616.9:c.7089+42_7089+43insCT (ATM)	ENSP00000278616.4:n.7089+42_7089+43insCT
ENST00000525056.2:n.1508+42_1508+43insCT (ATM)
ENST00000525537.3:n.46+42_46+43insCT (ATM)
ENST00000682286.1:n.1846+42_1846+43insCT (ATM)
ENST00000682302.1:n.1507+42_1507+43insCT (ATM)
ENST00000683174.1:n.8573+42_8573+43insCT (ATM)
ENST00000683524.1:n.2313+42_2313+43insCT (ATM)
ENST00000684152.1:n.2803+42_2803+43insCT (ATM)
ENST00000684447.1:n.1552+42_1552+43insCT (ATM)
ENST00000527805.6:c.*2153+42_*2153+43insCT (ATM)	ENSP00000435747.2:n.*2153+42_*2153+43insCT
ENST00000675595.1:c.*2224+42_*2224+43insCT (ATM)	ENSP00000502563.1:n.*2224+42_*2224+43insCT
ENST00000675843.1:c.7089+42_7089+43insCT (ATM) MANE Select	ENSP00000501606.1:n.7089+42_7089+43insCT
ENST00000278616.8:c.7089+42_7089+43insCT (ATM)	ENSP00000278616.4:n.7089+42_7089+43insCT
ENST00000452508.6:c.7089+42_7089+43insCT (ATM)	ENSP00000388058.2:n.7089+42_7089+43insCT
ENST00000524792.5:n.3304+42_3304+43insCT (ATM)
ENST00000525537.2:n.365+42_365+43insCT (ATM)
ENST00000525729.5:c.641-18730_641-18729insAG (C11orf65)	ENSP00000433395.1:n.641-18730_641-18729insAG
ENST00000527389.2:n.114+42_114+43insCT (ATM)
ENST00000533690.5:n.2493+42_2493+43insCT (ATM)
NM_000051.3:c.7089+42_7089+43insCT , LRG_135t1:c.7089+42_7089+43insCT (ATM)	NP_000042.3:n.7089+42_7089+43insCT
XM_005271561.3:c.7089+42_7089+43insCT (ATM)	XP_005271618.2:n.7089+42_7089+43insCT
XM_005271562.3:c.7089+42_7089+43insCT (ATM)	XP_005271619.2:n.7089+42_7089+43insCT
XM_006718843.2:c.7089+42_7089+43insCT (ATM)	XP_006718906.1:n.7089+42_7089+43insCT
XM_006718845.1:c.3045+42_3045+43insCT (ATM)	XP_006718908.1:n.3045+42_3045+43insCT
XM_011542840.1:c.7089+42_7089+43insCT (ATM)	XP_011541142.1:n.7089+42_7089+43insCT
XM_011542841.1:c.7089+42_7089+43insCT (ATM)	XP_011541143.1:n.7089+42_7089+43insCT
XM_011542842.1:c.6924+42_6924+43insCT (ATM)	XP_011541144.1:n.6924+42_6924+43insCT
XM_011542843.1:c.7089+42_7089+43insCT (ATM)	XP_011541145.1:n.7089+42_7089+43insCT
XM_011542844.1:c.6045+42_6045+43insCT (ATM)	XP_011541146.1:n.6045+42_6045+43insCT
XM_011542845.1:c.5781+42_5781+43insCT (ATM)	XP_011541147.1:n.5781+42_5781+43insCT
XM_011542847.1:c.2160+42_2160+43insCT (ATM)	XP_011541149.1:n.2160+42_2160+43insCT
NM_001330368.1:c.641-18730_641-18729insAG (C11orf65)	NP_001317297.1:n.641-18730_641-18729insAG
NM_001351110.1:c.*38+7419_*38+7420insAG (C11orf65)	NP_001338039.1:n.*38+7419_*38+7420insAG
NM_001351834.1:c.7089+42_7089+43insCT (ATM)	NP_001338763.1:n.7089+42_7089+43insCT
XM_005271562.5:c.7089+42_7089+43insCT (ATM)	XP_005271619.2:n.7089+42_7089+43insCT
XM_006718843.4:c.7089+42_7089+43insCT (ATM)	XP_006718906.1:n.7089+42_7089+43insCT
XM_006718845.2:c.3045+42_3045+43insCT (ATM)	XP_006718908.1:n.3045+42_3045+43insCT
XM_011542840.3:c.7089+42_7089+43insCT (ATM)	XP_011541142.1:n.7089+42_7089+43insCT
XM_011542842.3:c.6924+42_6924+43insCT (ATM)	XP_011541144.1:n.6924+42_6924+43insCT
XM_011542843.2:c.7089+42_7089+43insCT (ATM)	XP_011541145.1:n.7089+42_7089+43insCT
XM_011542844.3:c.6045+42_6045+43insCT (ATM)	XP_011541146.1:n.6045+42_6045+43insCT
XM_011542845.2:c.5781+42_5781+43insCT (ATM)	XP_011541147.1:n.5781+42_5781+43insCT
XM_017017789.2:c.7089+42_7089+43insCT (ATM)	XP_016873278.1:n.7089+42_7089+43insCT
XM_017017790.2:c.7089+42_7089+43insCT (ATM)	XP_016873279.1:n.7089+42_7089+43insCT
NM_001330368.2:c.641-18730_641-18729insAG (C11orf65)	NP_001317297.1:n.641-18730_641-18729insAG
NM_001351110.2:c.*38+7419_*38+7420insAG (C11orf65)	NP_001338039.1:n.*38+7419_*38+7420insAG
NM_001351834.2:c.7089+42_7089+43insCT (ATM)	NP_001338763.1:n.7089+42_7089+43insCT
NM_000051.4:c.7089+42_7089+43insCT (ATM) MANE Select	NP_000042.3:n.7089+42_7089+43insCT