Canonical Allele Identifier: CA2615859723

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108327361-GAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327365_108327407del , CM000673.2:g.108327365_108327407del	GRCh38
NC_000011.9:g.108198092_108198134del , CM000673.1:g.108198092_108198134del	GRCh37
NC_000011.8:g.107703302_107703344del	NCBI36
NG_009830.1:g.109534_109576del , LRG_135:g.109534_109576del
NG_054724.1:g.147429_147471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6976-280_6976-238del (ATM)	ENSP00000388058.2:n.6976-280_6976-238del
ENST00000713593.1:c.*6447-280_*6447-238del (ATM)	ENSP00000518889.1:n.*6447-280_*6447-238del
ENST00000278616.9:c.6976-280_6976-238del (ATM)	ENSP00000278616.4:n.6976-280_6976-238del
ENST00000525056.2:n.1395-280_1395-238del (ATM)
ENST00000682286.1:n.1733-280_1733-238del (ATM)
ENST00000682302.1:n.1394-280_1394-238del (ATM)
ENST00000683174.1:n.8460-280_8460-238del (ATM)
ENST00000683524.1:n.2200-280_2200-238del (ATM)
ENST00000684152.1:n.2690-280_2690-238del (ATM)
ENST00000684447.1:n.1159_1201del (ATM)
ENST00000527805.6:c.*2040-280_*2040-238del (ATM)	ENSP00000435747.2:n.*2040-280_*2040-238del
ENST00000675595.1:c.*2111-280_*2111-238del (ATM)	ENSP00000502563.1:n.*2111-280_*2111-238del
ENST00000675843.1:c.6976-280_6976-238del (ATM) MANE Select	ENSP00000501606.1:n.6976-280_6976-238del
ENST00000278616.8:c.6976-280_6976-238del (ATM)	ENSP00000278616.4:n.6976-280_6976-238del
ENST00000452508.6:c.6976-280_6976-238del (ATM)	ENSP00000388058.2:n.6976-280_6976-238del
ENST00000524792.5:n.3191-280_3191-238del (ATM)
ENST00000525729.5:c.641-18333_641-18291del (C11orf65)	ENSP00000433395.1:n.641-18333_641-18291del
ENST00000533690.5:n.2380-280_2380-238del (ATM)
NM_000051.3:c.6976-280_6976-238del , LRG_135t1:c.6976-280_6976-238del (ATM)	NP_000042.3:n.6976-280_6976-238del
XM_005271561.3:c.6976-280_6976-238del (ATM)	XP_005271618.2:n.6976-280_6976-238del
XM_005271562.3:c.6976-280_6976-238del (ATM)	XP_005271619.2:n.6976-280_6976-238del
XM_006718843.2:c.6976-280_6976-238del (ATM)	XP_006718906.1:n.6976-280_6976-238del
XM_006718845.1:c.2932-280_2932-238del (ATM)	XP_006718908.1:n.2932-280_2932-238del
XM_011542840.1:c.6976-280_6976-238del (ATM)	XP_011541142.1:n.6976-280_6976-238del
XM_011542841.1:c.6976-280_6976-238del (ATM)	XP_011541143.1:n.6976-280_6976-238del
XM_011542842.1:c.6811-280_6811-238del (ATM)	XP_011541144.1:n.6811-280_6811-238del
XM_011542843.1:c.6976-280_6976-238del (ATM)	XP_011541145.1:n.6976-280_6976-238del
XM_011542844.1:c.5932-280_5932-238del (ATM)	XP_011541146.1:n.5932-280_5932-238del
XM_011542845.1:c.5668-280_5668-238del (ATM)	XP_011541147.1:n.5668-280_5668-238del
XM_011542847.1:c.2047-280_2047-238del (ATM)	XP_011541149.1:n.2047-280_2047-238del
NM_001330368.1:c.641-18333_641-18291del (C11orf65)	NP_001317297.1:n.641-18333_641-18291del
NM_001351110.1:c.*38+7816_*38+7858del (C11orf65)	NP_001338039.1:n.*38+7816_*38+7858del
NM_001351834.1:c.6976-280_6976-238del (ATM)	NP_001338763.1:n.6976-280_6976-238del
XM_005271562.5:c.6976-280_6976-238del (ATM)	XP_005271619.2:n.6976-280_6976-238del
XM_006718843.4:c.6976-280_6976-238del (ATM)	XP_006718906.1:n.6976-280_6976-238del
XM_006718845.2:c.2932-280_2932-238del (ATM)	XP_006718908.1:n.2932-280_2932-238del
XM_011542840.3:c.6976-280_6976-238del (ATM)	XP_011541142.1:n.6976-280_6976-238del
XM_011542842.3:c.6811-280_6811-238del (ATM)	XP_011541144.1:n.6811-280_6811-238del
XM_011542843.2:c.6976-280_6976-238del (ATM)	XP_011541145.1:n.6976-280_6976-238del
XM_011542844.3:c.5932-280_5932-238del (ATM)	XP_011541146.1:n.5932-280_5932-238del
XM_011542845.2:c.5668-280_5668-238del (ATM)	XP_011541147.1:n.5668-280_5668-238del
XM_017017789.2:c.6976-280_6976-238del (ATM)	XP_016873278.1:n.6976-280_6976-238del
XM_017017790.2:c.6976-280_6976-238del (ATM)	XP_016873279.1:n.6976-280_6976-238del
NM_001330368.2:c.641-18333_641-18291del (C11orf65)	NP_001317297.1:n.641-18333_641-18291del
NM_001351110.2:c.*38+7816_*38+7858del (C11orf65)	NP_001338039.1:n.*38+7816_*38+7858del
NM_001351834.2:c.6976-280_6976-238del (ATM)	NP_001338763.1:n.6976-280_6976-238del
NM_000051.4:c.6976-280_6976-238del (ATM) MANE Select	NP_000042.3:n.6976-280_6976-238del