Canonical Allele Identifier: CA2793549685

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329277_108329278insAG , CM000673.2:g.108329277_108329278insAG	GRCh38
NC_000011.9:g.108200004_108200005insAG , CM000673.1:g.108200004_108200005insAG	GRCh37
NC_000011.8:g.107705214_107705215insAG	NCBI36
NG_009830.1:g.111446_111447insAG , LRG_135:g.111446_111447insAG
NG_054724.1:g.145555_145556insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7307+39_7307+40insAG (ATM)	ENSP00000388058.2:n.7307+39_7307+40insAG
ENST00000713593.1:c.*6778+39_*6778+40insAG (ATM)	ENSP00000518889.1:n.*6778+39_*6778+40insAG
ENST00000278616.9:c.7307+39_7307+40insAG (ATM)	ENSP00000278616.4:n.7307+39_7307+40insAG
ENST00000525056.2:n.1726+39_1726+40insAG (ATM)
ENST00000525537.3:n.264+39_264+40insAG (ATM)
ENST00000638786.2:n.144+39_144+40insAG (ATM)
ENST00000682286.1:n.2064+39_2064+40insAG (ATM)
ENST00000682302.1:n.1725+39_1725+40insAG (ATM)
ENST00000683174.1:n.8791+39_8791+40insAG (ATM)
ENST00000683524.1:n.2531+39_2531+40insAG (ATM)
ENST00000684152.1:n.3021+39_3021+40insAG (ATM)
ENST00000684447.1:n.1770+39_1770+40insAG (ATM)
ENST00000527805.6:c.*2371+39_*2371+40insAG (ATM)	ENSP00000435747.2:n.*2371+39_*2371+40insAG
ENST00000675595.1:c.*2442+39_*2442+40insAG (ATM)	ENSP00000502563.1:n.*2442+39_*2442+40insAG
ENST00000675843.1:c.7307+39_7307+40insAG (ATM) MANE Select	ENSP00000501606.1:n.7307+39_7307+40insAG
ENST00000278616.8:c.7307+39_7307+40insAG (ATM)	ENSP00000278616.4:n.7307+39_7307+40insAG
ENST00000452508.6:c.7307+39_7307+40insAG (ATM)	ENSP00000388058.2:n.7307+39_7307+40insAG
ENST00000524792.5:n.3522+39_3522+40insAG (ATM)
ENST00000525729.5:c.641-20207_641-20206insCT (C11orf65)	ENSP00000433395.1:n.641-20207_641-20206insCT
ENST00000527389.2:n.371_372insAG (ATM)
ENST00000533690.5:n.2711+39_2711+40insAG (ATM)
NM_000051.3:c.7307+39_7307+40insAG , LRG_135t1:c.7307+39_7307+40insAG (ATM)	NP_000042.3:n.7307+39_7307+40insAG
XM_005271561.3:c.7307+39_7307+40insAG (ATM)	XP_005271618.2:n.7307+39_7307+40insAG
XM_005271562.3:c.7307+39_7307+40insAG (ATM)	XP_005271619.2:n.7307+39_7307+40insAG
XM_006718843.2:c.7307+39_7307+40insAG (ATM)	XP_006718906.1:n.7307+39_7307+40insAG
XM_006718845.1:c.3263+39_3263+40insAG (ATM)	XP_006718908.1:n.3263+39_3263+40insAG
XM_011542840.1:c.7307+39_7307+40insAG (ATM)	XP_011541142.1:n.7307+39_7307+40insAG
XM_011542841.1:c.7307+39_7307+40insAG (ATM)	XP_011541143.1:n.7307+39_7307+40insAG
XM_011542842.1:c.7142+39_7142+40insAG (ATM)	XP_011541144.1:n.7142+39_7142+40insAG
XM_011542843.1:c.7307+39_7307+40insAG (ATM)	XP_011541145.1:n.7307+39_7307+40insAG
XM_011542844.1:c.6263+39_6263+40insAG (ATM)	XP_011541146.1:n.6263+39_6263+40insAG
XM_011542845.1:c.5999+39_5999+40insAG (ATM)	XP_011541147.1:n.5999+39_5999+40insAG
XM_011542847.1:c.2378+39_2378+40insAG (ATM)	XP_011541149.1:n.2378+39_2378+40insAG
NM_001330368.1:c.641-20207_641-20206insCT (C11orf65)	NP_001317297.1:n.641-20207_641-20206insCT
NM_001351110.1:c.*38+5942_*38+5943insCT (C11orf65)	NP_001338039.1:n.*38+5942_*38+5943insCT
NM_001351834.1:c.7307+39_7307+40insAG (ATM)	NP_001338763.1:n.7307+39_7307+40insAG
XM_005271562.5:c.7307+39_7307+40insAG (ATM)	XP_005271619.2:n.7307+39_7307+40insAG
XM_006718843.4:c.7307+39_7307+40insAG (ATM)	XP_006718906.1:n.7307+39_7307+40insAG
XM_006718845.2:c.3263+39_3263+40insAG (ATM)	XP_006718908.1:n.3263+39_3263+40insAG
XM_011542840.3:c.7307+39_7307+40insAG (ATM)	XP_011541142.1:n.7307+39_7307+40insAG
XM_011542842.3:c.7142+39_7142+40insAG (ATM)	XP_011541144.1:n.7142+39_7142+40insAG
XM_011542843.2:c.7307+39_7307+40insAG (ATM)	XP_011541145.1:n.7307+39_7307+40insAG
XM_011542844.3:c.6263+39_6263+40insAG (ATM)	XP_011541146.1:n.6263+39_6263+40insAG
XM_011542845.2:c.5999+39_5999+40insAG (ATM)	XP_011541147.1:n.5999+39_5999+40insAG
XM_017017789.2:c.7307+39_7307+40insAG (ATM)	XP_016873278.1:n.7307+39_7307+40insAG
XM_017017790.2:c.7307+39_7307+40insAG (ATM)	XP_016873279.1:n.7307+39_7307+40insAG
NM_001330368.2:c.641-20207_641-20206insCT (C11orf65)	NP_001317297.1:n.641-20207_641-20206insCT
NM_001351110.2:c.*38+5942_*38+5943insCT (C11orf65)	NP_001338039.1:n.*38+5942_*38+5943insCT
NM_001351834.2:c.7307+39_7307+40insAG (ATM)	NP_001338763.1:n.7307+39_7307+40insAG
NM_000051.4:c.7307+39_7307+40insAG (ATM) MANE Select	NP_000042.3:n.7307+39_7307+40insAG