Canonical Allele Identifier: CA2615863094

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108354744-C-CAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354746_108354749dup , CM000673.2:g.108354746_108354749dup	GRCh38
NC_000011.9:g.108225473_108225476dup , CM000673.1:g.108225473_108225476dup	GRCh37
NC_000011.8:g.107730683_107730686dup	NCBI36
NG_009830.1:g.136915_136918dup , LRG_135:g.136915_136918dup
NG_054724.1:g.120085_120088dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8787-65_8787-62dup (ATM)	ENSP00000388058.2:n.8787-65_8787-62dup
ENST00000713593.1:c.*8258-65_*8258-62dup (ATM)	ENSP00000518889.1:n.*8258-65_*8258-62dup
ENST00000278616.9:c.8787-65_8787-62dup (ATM)	ENSP00000278616.4:n.8787-65_8787-62dup
ENST00000638786.2:n.1485-65_1485-62dup (ATM)
ENST00000682286.1:n.3544-65_3544-62dup (ATM)
ENST00000682302.1:n.3205-65_3205-62dup (ATM)
ENST00000683174.1:n.10271-65_10271-62dup (ATM)
ENST00000683524.1:n.4011-65_4011-62dup (ATM)
ENST00000684152.1:n.4203-65_4203-62dup (ATM)
ENST00000684180.1:n.1261-65_1261-62dup (ATM)
ENST00000684447.1:n.5280-65_5280-62dup (ATM)
ENST00000527805.6:c.*3851-65_*3851-62dup (ATM)	ENSP00000435747.2:n.*3851-65_*3851-62dup
ENST00000675595.1:c.*3922-65_*3922-62dup (ATM)	ENSP00000502563.1:n.*3922-65_*3922-62dup
ENST00000675843.1:c.8787-65_8787-62dup (ATM) MANE Select	ENSP00000501606.1:n.8787-65_8787-62dup
ENST00000278616.8:c.8787-65_8787-62dup (ATM)	ENSP00000278616.4:n.8787-65_8787-62dup
ENST00000452508.6:c.8787-65_8787-62dup (ATM)	ENSP00000388058.2:n.8787-65_8787-62dup
ENST00000524755.5:c.227-19456_227-19453dup (C11orf65)
ENST00000524792.5:n.5002-65_5002-62dup (ATM)
ENST00000525178.5:n.275-65_275-62dup (ATM)
ENST00000525729.5:c.640+31172_640+31175dup (C11orf65)	ENSP00000433395.1:n.640+31172_640+31175dup
ENST00000526725.1:n.272-14384_272-14381dup (C11orf65)
ENST00000527181.1:n.126-65_126-62dup (ATM)
ENST00000527531.5:c.*1196+167_*1196+170dup (C11orf65)	ENSP00000431706.1:n.*1196+167_*1196+170dup
ENST00000615746.4:c.*1196+167_*1196+170dup (C11orf65)	ENSP00000483537.1:n.*1196+167_*1196+170dup
NM_000051.3:c.8787-65_8787-62dup , LRG_135t1:c.8787-65_8787-62dup (ATM)	NP_000042.3:n.8787-65_8787-62dup
XM_005271414.3:c.788-19456_788-19453dup (C11orf65)	XP_005271471.1:n.788-19456_788-19453dup
XM_005271415.3:c.732-19456_732-19453dup (C11orf65)	XP_005271472.1:n.732-19456_732-19453dup
XM_005271561.3:c.8787-65_8787-62dup (ATM)	XP_005271618.2:n.8787-65_8787-62dup
XM_005271562.3:c.8787-65_8787-62dup (ATM)	XP_005271619.2:n.8787-65_8787-62dup
XM_006718843.2:c.8787-65_8787-62dup (ATM)	XP_006718906.1:n.8787-65_8787-62dup
XM_006718845.1:c.4743-65_4743-62dup (ATM)	XP_006718908.1:n.4743-65_4743-62dup
XM_011542640.1:c.788-14384_788-14381dup (C11orf65)	XP_011540942.1:n.788-14384_788-14381dup
XM_011542642.1:c.732-5675_732-5672dup (C11orf65)	XP_011540944.1:n.732-5675_732-5672dup
XM_011542643.1:c.732-14384_732-14381dup (C11orf65)	XP_011540945.1:n.732-14384_732-14381dup
XM_011542840.1:c.8787-65_8787-62dup (ATM)	XP_011541142.1:n.8787-65_8787-62dup
XM_011542841.1:c.8787-65_8787-62dup (ATM)	XP_011541143.1:n.8787-65_8787-62dup
XM_011542842.1:c.8622-65_8622-62dup (ATM)	XP_011541144.1:n.8622-65_8622-62dup
XM_011542844.1:c.7743-65_7743-62dup (ATM)	XP_011541146.1:n.7743-65_7743-62dup
XM_011542845.1:c.7479-65_7479-62dup (ATM)	XP_011541147.1:n.7479-65_7479-62dup
XM_011542847.1:c.3858-65_3858-62dup (ATM)	XP_011541149.1:n.3858-65_3858-62dup
NM_001330368.1:c.640+31172_640+31175dup (C11orf65)	NP_001317297.1:n.640+31172_640+31175dup
NM_001351110.1:c.695-19456_695-19453dup (C11orf65)	NP_001338039.1:n.695-19456_695-19453dup
NM_001351834.1:c.8787-65_8787-62dup (ATM)	NP_001338763.1:n.8787-65_8787-62dup
NR_147053.2:n.2301+167_2301+170dup (C11orf65)
XM_005271414.4:c.788-19456_788-19453dup (C11orf65)	XP_005271471.1:n.788-19456_788-19453dup
XM_005271415.4:c.732-19456_732-19453dup (C11orf65)	XP_005271472.1:n.732-19456_732-19453dup
XM_005271562.5:c.8787-65_8787-62dup (ATM)	XP_005271619.2:n.8787-65_8787-62dup
XM_006718843.4:c.8787-65_8787-62dup (ATM)	XP_006718906.1:n.8787-65_8787-62dup
XM_006718845.2:c.4743-65_4743-62dup (ATM)	XP_006718908.1:n.4743-65_4743-62dup
XM_011542640.2:c.788-14384_788-14381dup (C11orf65)	XP_011540942.1:n.788-14384_788-14381dup
XM_011542643.2:c.732-14384_732-14381dup (C11orf65)	XP_011540945.1:n.732-14384_732-14381dup
XM_011542840.3:c.8787-65_8787-62dup (ATM)	XP_011541142.1:n.8787-65_8787-62dup
XM_011542842.3:c.8622-65_8622-62dup (ATM)	XP_011541144.1:n.8622-65_8622-62dup
XM_011542844.3:c.7743-65_7743-62dup (ATM)	XP_011541146.1:n.7743-65_7743-62dup
XM_011542845.2:c.7479-65_7479-62dup (ATM)	XP_011541147.1:n.7479-65_7479-62dup
XM_017017247.1:c.904-14384_904-14381dup (C11orf65)	XP_016872736.1:n.904-14384_904-14381dup
XM_017017789.2:c.8787-65_8787-62dup (ATM)	XP_016873278.1:n.8787-65_8787-62dup
XM_017017790.2:c.8787-65_8787-62dup (ATM)	XP_016873279.1:n.8787-65_8787-62dup
NM_001330368.2:c.640+31172_640+31175dup (C11orf65)	NP_001317297.1:n.640+31172_640+31175dup
NM_001351110.2:c.695-19456_695-19453dup (C11orf65)	NP_001338039.1:n.695-19456_695-19453dup
NM_001351834.2:c.8787-65_8787-62dup (ATM)	NP_001338763.1:n.8787-65_8787-62dup
NM_000051.4:c.8787-65_8787-62dup (ATM) MANE Select	NP_000042.3:n.8787-65_8787-62dup
NR_147053.3:n.2299+167_2299+170dup (C11orf65)