Canonical Allele Identifier: CA2615860217

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108327796-G-GCATATT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327799_108327800insATTCAT , CM000673.2:g.108327799_108327800insATTCAT	GRCh38
NC_000011.9:g.108198526_108198527insATTCAT , CM000673.1:g.108198526_108198527insATTCAT	GRCh37
NC_000011.8:g.107703736_107703737insATTCAT	NCBI36
NG_009830.1:g.109968_109969insATTCAT , LRG_135:g.109968_109969insATTCAT
NG_054724.1:g.147036_147037insAATATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7089+41_7089+42insATTCAT (ATM)	ENSP00000388058.2:n.7089+41_7089+42insATTCAT
ENST00000713593.1:c.*6560+41_*6560+42insATTCAT (ATM)	ENSP00000518889.1:n.*6560+41_*6560+42insATTCAT
ENST00000278616.9:c.7089+41_7089+42insATTCAT (ATM)	ENSP00000278616.4:n.7089+41_7089+42insATTCAT
ENST00000525056.2:n.1508+41_1508+42insATTCAT (ATM)
ENST00000525537.3:n.46+41_46+42insATTCAT (ATM)
ENST00000682286.1:n.1846+41_1846+42insATTCAT (ATM)
ENST00000682302.1:n.1507+41_1507+42insATTCAT (ATM)
ENST00000683174.1:n.8573+41_8573+42insATTCAT (ATM)
ENST00000683524.1:n.2313+41_2313+42insATTCAT (ATM)
ENST00000684152.1:n.2803+41_2803+42insATTCAT (ATM)
ENST00000684447.1:n.1552+41_1552+42insATTCAT (ATM)
ENST00000527805.6:c.*2153+41_*2153+42insATTCAT (ATM)	ENSP00000435747.2:n.*2153+41_*2153+42insATTCAT
ENST00000675595.1:c.*2224+41_*2224+42insATTCAT (ATM)	ENSP00000502563.1:n.*2224+41_*2224+42insATTCAT
ENST00000675843.1:c.7089+41_7089+42insATTCAT (ATM) MANE Select	ENSP00000501606.1:n.7089+41_7089+42insATTCAT
ENST00000278616.8:c.7089+41_7089+42insATTCAT (ATM)	ENSP00000278616.4:n.7089+41_7089+42insATTCAT
ENST00000452508.6:c.7089+41_7089+42insATTCAT (ATM)	ENSP00000388058.2:n.7089+41_7089+42insATTCAT
ENST00000524792.5:n.3304+41_3304+42insATTCAT (ATM)
ENST00000525537.2:n.365+41_365+42insATTCAT (ATM)
ENST00000525729.5:c.641-18726_641-18725insAATATG (C11orf65)	ENSP00000433395.1:n.641-18726_641-18725insAATATG
ENST00000527389.2:n.114+41_114+42insATTCAT (ATM)
ENST00000533690.5:n.2493+41_2493+42insATTCAT (ATM)
NM_000051.3:c.7089+41_7089+42insATTCAT , LRG_135t1:c.7089+41_7089+42insATTCAT (ATM)	NP_000042.3:n.7089+41_7089+42insATTCAT
XM_005271561.3:c.7089+41_7089+42insATTCAT (ATM)	XP_005271618.2:n.7089+41_7089+42insATTCAT
XM_005271562.3:c.7089+41_7089+42insATTCAT (ATM)	XP_005271619.2:n.7089+41_7089+42insATTCAT
XM_006718843.2:c.7089+41_7089+42insATTCAT (ATM)	XP_006718906.1:n.7089+41_7089+42insATTCAT
XM_006718845.1:c.3045+41_3045+42insATTCAT (ATM)	XP_006718908.1:n.3045+41_3045+42insATTCAT
XM_011542840.1:c.7089+41_7089+42insATTCAT (ATM)	XP_011541142.1:n.7089+41_7089+42insATTCAT
XM_011542841.1:c.7089+41_7089+42insATTCAT (ATM)	XP_011541143.1:n.7089+41_7089+42insATTCAT
XM_011542842.1:c.6924+41_6924+42insATTCAT (ATM)	XP_011541144.1:n.6924+41_6924+42insATTCAT
XM_011542843.1:c.7089+41_7089+42insATTCAT (ATM)	XP_011541145.1:n.7089+41_7089+42insATTCAT
XM_011542844.1:c.6045+41_6045+42insATTCAT (ATM)	XP_011541146.1:n.6045+41_6045+42insATTCAT
XM_011542845.1:c.5781+41_5781+42insATTCAT (ATM)	XP_011541147.1:n.5781+41_5781+42insATTCAT
XM_011542847.1:c.2160+41_2160+42insATTCAT (ATM)	XP_011541149.1:n.2160+41_2160+42insATTCAT
NM_001330368.1:c.641-18726_641-18725insAATATG (C11orf65)	NP_001317297.1:n.641-18726_641-18725insAATATG
NM_001351110.1:c.*38+7423_*38+7424insAATATG (C11orf65)	NP_001338039.1:n.*38+7423_*38+7424insAATATG
NM_001351834.1:c.7089+41_7089+42insATTCAT (ATM)	NP_001338763.1:n.7089+41_7089+42insATTCAT
XM_005271562.5:c.7089+41_7089+42insATTCAT (ATM)	XP_005271619.2:n.7089+41_7089+42insATTCAT
XM_006718843.4:c.7089+41_7089+42insATTCAT (ATM)	XP_006718906.1:n.7089+41_7089+42insATTCAT
XM_006718845.2:c.3045+41_3045+42insATTCAT (ATM)	XP_006718908.1:n.3045+41_3045+42insATTCAT
XM_011542840.3:c.7089+41_7089+42insATTCAT (ATM)	XP_011541142.1:n.7089+41_7089+42insATTCAT
XM_011542842.3:c.6924+41_6924+42insATTCAT (ATM)	XP_011541144.1:n.6924+41_6924+42insATTCAT
XM_011542843.2:c.7089+41_7089+42insATTCAT (ATM)	XP_011541145.1:n.7089+41_7089+42insATTCAT
XM_011542844.3:c.6045+41_6045+42insATTCAT (ATM)	XP_011541146.1:n.6045+41_6045+42insATTCAT
XM_011542845.2:c.5781+41_5781+42insATTCAT (ATM)	XP_011541147.1:n.5781+41_5781+42insATTCAT
XM_017017789.2:c.7089+41_7089+42insATTCAT (ATM)	XP_016873278.1:n.7089+41_7089+42insATTCAT
XM_017017790.2:c.7089+41_7089+42insATTCAT (ATM)	XP_016873279.1:n.7089+41_7089+42insATTCAT
NM_001330368.2:c.641-18726_641-18725insAATATG (C11orf65)	NP_001317297.1:n.641-18726_641-18725insAATATG
NM_001351110.2:c.*38+7423_*38+7424insAATATG (C11orf65)	NP_001338039.1:n.*38+7423_*38+7424insAATATG
NM_001351834.2:c.7089+41_7089+42insATTCAT (ATM)	NP_001338763.1:n.7089+41_7089+42insATTCAT
NM_000051.4:c.7089+41_7089+42insATTCAT (ATM) MANE Select	NP_000042.3:n.7089+41_7089+42insATTCAT