Canonical Allele Identifier: CA2615863126

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108335165-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335165G>C , CM000673.2:g.108335165G>C	GRCh38
NC_000011.9:g.108205892G>C , CM000673.1:g.108205892G>C	GRCh37
NC_000011.8:g.107711102G>C	NCBI36
NG_009830.1:g.117334G>C , LRG_135:g.117334G>C
NG_054724.1:g.139668C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8151+56G>C (ATM)	ENSP00000388058.2:n.8151+56G>C
ENST00000713593.1:c.*7622+56G>C (ATM)	ENSP00000518889.1:n.*7622+56G>C
ENST00000278616.9:c.8151+56G>C (ATM)	ENSP00000278616.4:n.8151+56G>C
ENST00000525056.2:n.2570+56G>C (ATM)
ENST00000638786.2:n.849+56G>C (ATM)
ENST00000682286.1:n.2908+56G>C (ATM)
ENST00000682302.1:n.2569+56G>C (ATM)
ENST00000683174.1:n.9635+56G>C (ATM)
ENST00000683524.1:n.3375+56G>C (ATM)
ENST00000684152.1:n.3567+56G>C (ATM)
ENST00000684180.1:n.625+56G>C (ATM)
ENST00000684447.1:n.4644+56G>C (ATM)
ENST00000527805.6:c.*3215+56G>C (ATM)	ENSP00000435747.2:n.*3215+56G>C
ENST00000675595.1:c.*3286+56G>C (ATM)	ENSP00000502563.1:n.*3286+56G>C
ENST00000675843.1:c.8151+56G>C (ATM) MANE Select	ENSP00000501606.1:n.8151+56G>C
ENST00000278616.8:c.8151+56G>C (ATM)	ENSP00000278616.4:n.8151+56G>C
ENST00000452508.6:c.8151+56G>C (ATM)	ENSP00000388058.2:n.8151+56G>C
ENST00000524755.5:c.299+55C>G (C11orf65)
ENST00000524792.5:n.4366+56G>C (ATM)
ENST00000525056.1:n.348+56G>C (ATM)
ENST00000525729.5:c.641-26094C>G (C11orf65)	ENSP00000433395.1:n.641-26094C>G
ENST00000527531.5:c.*1269+55C>G (C11orf65)	ENSP00000431706.1:n.*1269+55C>G
ENST00000533979.5:n.363+56G>C (ATM)
ENST00000615746.4:c.*1269+55C>G (C11orf65)	ENSP00000483537.1:n.*1269+55C>G
NM_000051.3:c.8151+56G>C , LRG_135t1:c.8151+56G>C (ATM)	NP_000042.3:n.8151+56G>C
XM_005271414.3:c.*38+55C>G (C11orf65)	XP_005271471.1:n.*38+55C>G
XM_005271415.3:c.804+55C>G (C11orf65)	XP_005271472.1:n.804+55C>G
XM_005271561.3:c.8151+56G>C (ATM)	XP_005271618.2:n.8151+56G>C
XM_005271562.3:c.8151+56G>C (ATM)	XP_005271619.2:n.8151+56G>C
XM_006718843.2:c.8151+56G>C (ATM)	XP_006718906.1:n.8151+56G>C
XM_006718845.1:c.4107+56G>C (ATM)	XP_006718908.1:n.4107+56G>C
XM_011542840.1:c.8151+56G>C (ATM)	XP_011541142.1:n.8151+56G>C
XM_011542841.1:c.8151+56G>C (ATM)	XP_011541143.1:n.8151+56G>C
XM_011542842.1:c.7986+56G>C (ATM)	XP_011541144.1:n.7986+56G>C
XM_011542843.1:c.8151+56G>C (ATM)	XP_011541145.1:n.8151+56G>C
XM_011542844.1:c.7107+56G>C (ATM)	XP_011541146.1:n.7107+56G>C
XM_011542845.1:c.6843+56G>C (ATM)	XP_011541147.1:n.6843+56G>C
XM_011542847.1:c.3222+56G>C (ATM)	XP_011541149.1:n.3222+56G>C
NM_001330368.1:c.641-26094C>G (C11orf65)	NP_001317297.1:n.641-26094C>G
NM_001351110.1:c.*38+55C>G (C11orf65)	NP_001338039.1:n.*38+55C>G
NM_001351834.1:c.8151+56G>C (ATM)	NP_001338763.1:n.8151+56G>C
NR_147053.2:n.2374+55C>G (C11orf65)
XM_005271414.4:c.*38+55C>G (C11orf65)	XP_005271471.1:n.*38+55C>G
XM_005271415.4:c.804+55C>G (C11orf65)	XP_005271472.1:n.804+55C>G
XM_005271562.5:c.8151+56G>C (ATM)	XP_005271619.2:n.8151+56G>C
XM_006718843.4:c.8151+56G>C (ATM)	XP_006718906.1:n.8151+56G>C
XM_006718845.2:c.4107+56G>C (ATM)	XP_006718908.1:n.4107+56G>C
XM_011542840.3:c.8151+56G>C (ATM)	XP_011541142.1:n.8151+56G>C
XM_011542842.3:c.7986+56G>C (ATM)	XP_011541144.1:n.7986+56G>C
XM_011542843.2:c.8151+56G>C (ATM)	XP_011541145.1:n.8151+56G>C
XM_011542844.3:c.7107+56G>C (ATM)	XP_011541146.1:n.7107+56G>C
XM_011542845.2:c.6843+56G>C (ATM)	XP_011541147.1:n.6843+56G>C
XM_017017789.2:c.8151+56G>C (ATM)	XP_016873278.1:n.8151+56G>C
XM_017017790.2:c.8151+56G>C (ATM)	XP_016873279.1:n.8151+56G>C
NM_001330368.2:c.641-26094C>G (C11orf65)	NP_001317297.1:n.641-26094C>G
NM_001351110.2:c.*38+55C>G (C11orf65)	NP_001338039.1:n.*38+55C>G
NM_001351834.2:c.8151+56G>C (ATM)	NP_001338763.1:n.8151+56G>C
NM_000051.4:c.8151+56G>C (ATM) MANE Select	NP_000042.3:n.8151+56G>C
NR_147053.3:n.2372+55C>G (C11orf65)