Canonical Allele Identifier: CA916080473

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 837012
• ClinVar RCV Id: RCV001038253 ; RCV001732018 ; RCV002264996 ; RCV002363561 ; RCV003467717
• dbSNP Id: rs2085078278
• gnomAD v4: 11-108319977-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108319977_108319978insG , CM000673.2:g.108319977_108319978insG	GRCh38
NC_000011.9:g.108190704_108190705insG , CM000673.1:g.108190704_108190705insG	GRCh37
NC_000011.8:g.107695914_107695915insG	NCBI36
NG_009830.1:g.102146_102147insG , LRG_135:g.102146_102147insG
NG_054724.1:g.154855_154856insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6371_6372insG (ATM)	ENSP00000388058.2:p.Tyr2124Ter
ENST00000713593.1:c.*5842_*5843insG (ATM)	ENSP00000518889.1:n.*5842_*5843insG
ENST00000278616.9:c.6371_6372insG (ATM)	ENSP00000278616.4:p.Tyr2124Ter
ENST00000525056.2:n.790_791insG (ATM)
ENST00000682286.1:n.1128_1129insG (ATM)
ENST00000682302.1:n.789_790insG (ATM)
ENST00000683174.1:n.7855_7856insG (ATM)
ENST00000683524.1:n.1595_1596insG (ATM)
ENST00000684152.1:n.2085_2086insG (ATM)
ENST00000527805.6:c.*1435_*1436insG (ATM)	ENSP00000435747.2:n.*1435_*1436insG
ENST00000675595.1:c.*1435_*1436insG (ATM)	ENSP00000502563.1:n.*1435_*1436insG
ENST00000675843.1:c.6371_6372insG (ATM) MANE Select	ENSP00000501606.1:p.Tyr2124Ter
ENST00000278616.8:c.6371_6372insG (ATM)	ENSP00000278616.4:p.Tyr2124Ter
ENST00000452508.6:c.6371_6372insG (ATM)	ENSP00000388058.2:p.Tyr2124Ter
ENST00000524792.5:n.2586_2587insG (ATM)
ENST00000525729.5:c.641-10907_641-10906insC (C11orf65)	ENSP00000433395.1:n.641-10907_641-10906insC
ENST00000533690.5:n.1775_1776insG (ATM)
NM_000051.3:c.6371_6372insG , LRG_135t1:c.6371_6372insG (ATM)	NP_000042.3:p.Tyr2124Ter
XM_005271561.3:c.6371_6372insG (ATM)	XP_005271618.2:p.Tyr2124Ter
XM_005271562.3:c.6371_6372insG (ATM)	XP_005271619.2:p.Tyr2124Ter
XM_006718843.2:c.6371_6372insG (ATM)	XP_006718906.1:p.Tyr2124Ter
XM_006718845.1:c.2327_2328insG (ATM)	XP_006718908.1:p.Tyr776Ter
XM_011542840.1:c.6371_6372insG (ATM)	XP_011541142.1:p.Tyr2124Ter
XM_011542841.1:c.6371_6372insG (ATM)	XP_011541143.1:p.Tyr2124Ter
XM_011542842.1:c.6206_6207insG (ATM)	XP_011541144.1:p.Tyr2069Ter
XM_011542843.1:c.6371_6372insG (ATM)	XP_011541145.1:p.Tyr2124Ter
XM_011542844.1:c.5327_5328insG (ATM)	XP_011541146.1:p.Tyr1776Ter
XM_011542845.1:c.5063_5064insG (ATM)	XP_011541147.1:p.Tyr1688Ter
XM_011542847.1:c.1442_1443insG (ATM)	XP_011541149.1:p.Tyr481Ter
NM_001330368.1:c.641-10907_641-10906insC (C11orf65)	NP_001317297.1:n.641-10907_641-10906insC
NM_001351110.1:c.*39-10907_*39-10906insC (C11orf65)	NP_001338039.1:n.*39-10907_*39-10906insC
NM_001351834.1:c.6371_6372insG (ATM)	NP_001338763.1:p.Tyr2124Ter
XM_005271562.5:c.6371_6372insG (ATM)	XP_005271619.2:p.Tyr2124Ter
XM_006718843.4:c.6371_6372insG (ATM)	XP_006718906.1:p.Tyr2124Ter
XM_006718845.2:c.2327_2328insG (ATM)	XP_006718908.1:p.Tyr776Ter
XM_011542840.3:c.6371_6372insG (ATM)	XP_011541142.1:p.Tyr2124Ter
XM_011542842.3:c.6206_6207insG (ATM)	XP_011541144.1:p.Tyr2069Ter
XM_011542843.2:c.6371_6372insG (ATM)	XP_011541145.1:p.Tyr2124Ter
XM_011542844.3:c.5327_5328insG (ATM)	XP_011541146.1:p.Tyr1776Ter
XM_011542845.2:c.5063_5064insG (ATM)	XP_011541147.1:p.Tyr1688Ter
XM_017017789.2:c.6371_6372insG (ATM)	XP_016873278.1:p.Tyr2124Ter
XM_017017790.2:c.6371_6372insG (ATM)	XP_016873279.1:p.Tyr2124Ter
XM_017017791.1:c.6371_6372insG (ATM)	XP_016873280.1:p.Tyr2124Ter
NM_001330368.2:c.641-10907_641-10906insC (C11orf65)	NP_001317297.1:n.641-10907_641-10906insC
NM_001351110.2:c.*39-10907_*39-10906insC (C11orf65)	NP_001338039.1:n.*39-10907_*39-10906insC
NM_001351834.2:c.6371_6372insG (ATM)	NP_001338763.1:p.Tyr2124Ter
NM_000051.4:c.6371_6372insG (ATM) MANE Select	NP_000042.3:p.Tyr2124Ter