Canonical Allele Identifier: CA915947647

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 662504
• ClinVar RCV Id: RCV001024838 ; RCV000820161 ; RCV004029029
• dbSNP Id: rs1591776808
• gnomAD v4: 11-108315863-ATAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315865_108315868del , CM000673.2:g.108315865_108315868del	GRCh38
NC_000011.9:g.108186592_108186595del , CM000673.1:g.108186592_108186595del	GRCh37
NC_000011.8:g.107691802_107691805del	NCBI36
NG_009830.1:g.98034_98037del , LRG_135:g.98034_98037del
NG_054724.1:g.158966_158969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6049_6052del (ATM)	ENSP00000388058.2:p.Ser2017CysfsTer29
ENST00000713593.1:c.*5520_*5523del (ATM)	ENSP00000518889.1:n.*5520_*5523del
ENST00000278616.9:c.6049_6052del (ATM)	ENSP00000278616.4:p.Ser2017CysfsTer29
ENST00000525056.2:n.468_471del (ATM)
ENST00000682286.1:n.806_809del (ATM)
ENST00000682302.1:n.467_470del (ATM)
ENST00000683174.1:n.7533_7536del (ATM)
ENST00000683524.1:n.1273_1276del (ATM)
ENST00000684152.1:n.1763_1766del (ATM)
ENST00000527805.6:c.*1113_*1116del (ATM)	ENSP00000435747.2:n.*1113_*1116del
ENST00000675595.1:c.*1113_*1116del (ATM)	ENSP00000502563.1:n.*1113_*1116del
ENST00000675843.1:c.6049_6052del (ATM) MANE Select	ENSP00000501606.1:p.Ser2017CysfsTer29
ENST00000278616.8:c.6049_6052del (ATM)	ENSP00000278616.4:p.Ser2017CysfsTer29
ENST00000452508.6:c.6049_6052del (ATM)	ENSP00000388058.2:p.Ser2017CysfsTer29
ENST00000524792.5:n.2264_2267del (ATM)
ENST00000525729.5:c.641-6796_641-6793del (C11orf65)	ENSP00000433395.1:n.641-6796_641-6793del
ENST00000529588.5:c.473_476del (ATM)
ENST00000532765.1:n.366_369del (ATM)
ENST00000533690.5:n.1453_1456del (ATM)
NM_000051.3:c.6049_6052del , LRG_135t1:c.6049_6052del (ATM)	NP_000042.3:p.Ser2017CysfsTer29
XM_005271561.3:c.6049_6052del (ATM)	XP_005271618.2:p.Ser2017CysfsTer29
XM_005271562.3:c.6049_6052del (ATM)	XP_005271619.2:p.Ser2017CysfsTer29
XM_006718843.2:c.6049_6052del (ATM)	XP_006718906.1:p.Ser2017CysfsTer29
XM_006718845.1:c.2005_2008del (ATM)	XP_006718908.1:p.Ser669CysfsTer29
XM_011542840.1:c.6049_6052del (ATM)	XP_011541142.1:p.Ser2017CysfsTer29
XM_011542841.1:c.6049_6052del (ATM)	XP_011541143.1:p.Ser2017CysfsTer29
XM_011542842.1:c.5884_5887del (ATM)	XP_011541144.1:p.Ser1962CysfsTer29
XM_011542843.1:c.6049_6052del (ATM)	XP_011541145.1:p.Ser2017CysfsTer29
XM_011542844.1:c.5005_5008del (ATM)	XP_011541146.1:p.Ser1669CysfsTer29
XM_011542845.1:c.4741_4744del (ATM)	XP_011541147.1:p.Ser1581CysfsTer29
XM_011542847.1:c.1120_1123del (ATM)	XP_011541149.1:p.Ser374CysfsTer29
NM_001330368.1:c.641-6796_641-6793del (C11orf65)	NP_001317297.1:n.641-6796_641-6793del
NM_001351110.1:c.*39-6796_*39-6793del (C11orf65)	NP_001338039.1:n.*39-6796_*39-6793del
NM_001351834.1:c.6049_6052del (ATM)	NP_001338763.1:p.Ser2017CysfsTer29
XM_005271562.5:c.6049_6052del (ATM)	XP_005271619.2:p.Ser2017CysfsTer29
XM_006718843.4:c.6049_6052del (ATM)	XP_006718906.1:p.Ser2017CysfsTer29
XM_006718845.2:c.2005_2008del (ATM)	XP_006718908.1:p.Ser669CysfsTer29
XM_011542840.3:c.6049_6052del (ATM)	XP_011541142.1:p.Ser2017CysfsTer29
XM_011542842.3:c.5884_5887del (ATM)	XP_011541144.1:p.Ser1962CysfsTer29
XM_011542843.2:c.6049_6052del (ATM)	XP_011541145.1:p.Ser2017CysfsTer29
XM_011542844.3:c.5005_5008del (ATM)	XP_011541146.1:p.Ser1669CysfsTer29
XM_011542845.2:c.4741_4744del (ATM)	XP_011541147.1:p.Ser1581CysfsTer29
XM_017017789.2:c.6049_6052del (ATM)	XP_016873278.1:p.Ser2017CysfsTer29
XM_017017790.2:c.6049_6052del (ATM)	XP_016873279.1:p.Ser2017CysfsTer29
XM_017017791.1:c.6049_6052del (ATM)	XP_016873280.1:p.Ser2017CysfsTer29
NM_001330368.2:c.641-6796_641-6793del (C11orf65)	NP_001317297.1:n.641-6796_641-6793del
NM_001351110.2:c.*39-6796_*39-6793del (C11orf65)	NP_001338039.1:n.*39-6796_*39-6793del
NM_001351834.2:c.6049_6052del (ATM)	NP_001338763.1:p.Ser2017CysfsTer29
NM_000051.4:c.6049_6052del (ATM) MANE Select	NP_000042.3:p.Ser2017CysfsTer29