Canonical Allele Identifier: CA2580083054

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1754913
• ClinVar RCV Id: RCV002367075

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325428_108325429insCTTTT , CM000673.2:g.108325428_108325429insCTTTT	GRCh38
NC_000011.9:g.108196155_108196156insCTTTT , CM000673.1:g.108196155_108196156insCTTTT	GRCh37
NC_000011.8:g.107701365_107701366insCTTTT	NCBI36
NG_009830.1:g.107597_107598insCTTTT , LRG_135:g.107597_107598insCTTTT
NG_054724.1:g.149407_149408insAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6691_6692insCTTTT (ATM)	ENSP00000388058.2:p.Leu2231SerfsTer6
ENST00000713593.1:c.*6162_*6163insCTTTT (ATM)	ENSP00000518889.1:n.*6162_*6163insCTTTT
ENST00000278616.9:c.6691_6692insCTTTT (ATM)	ENSP00000278616.4:p.Leu2231SerfsTer6
ENST00000525056.2:n.1110_1111insCTTTT (ATM)
ENST00000682286.1:n.1448_1449insCTTTT (ATM)
ENST00000682302.1:n.1109_1110insCTTTT (ATM)
ENST00000683174.1:n.8175_8176insCTTTT (ATM)
ENST00000683524.1:n.1915_1916insCTTTT (ATM)
ENST00000684152.1:n.2405_2406insCTTTT (ATM)
ENST00000527805.6:c.*1755_*1756insCTTTT (ATM)	ENSP00000435747.2:n.*1755_*1756insCTTTT
ENST00000675595.1:c.*1826_*1827insCTTTT (ATM)	ENSP00000502563.1:n.*1826_*1827insCTTTT
ENST00000675843.1:c.6691_6692insCTTTT (ATM) MANE Select	ENSP00000501606.1:p.Leu2231SerfsTer6
ENST00000278616.8:c.6691_6692insCTTTT (ATM)	ENSP00000278616.4:p.Leu2231SerfsTer6
ENST00000452508.6:c.6691_6692insCTTTT (ATM)	ENSP00000388058.2:p.Leu2231SerfsTer6
ENST00000524792.5:n.2906_2907insCTTTT (ATM)
ENST00000525729.5:c.641-16355_641-16354insAGAAA (C11orf65)	ENSP00000433395.1:n.641-16355_641-16354insAGAAA
ENST00000533690.5:n.2095_2096insCTTTT (ATM)
NM_000051.3:c.6691_6692insCTTTT , LRG_135t1:c.6691_6692insCTTTT (ATM)	NP_000042.3:p.Leu2231SerfsTer6
XM_005271561.3:c.6691_6692insCTTTT (ATM)	XP_005271618.2:p.Leu2231SerfsTer6
XM_005271562.3:c.6691_6692insCTTTT (ATM)	XP_005271619.2:p.Leu2231SerfsTer6
XM_006718843.2:c.6691_6692insCTTTT (ATM)	XP_006718906.1:p.Leu2231SerfsTer6
XM_006718845.1:c.2647_2648insCTTTT (ATM)	XP_006718908.1:p.Leu883SerfsTer6
XM_011542840.1:c.6691_6692insCTTTT (ATM)	XP_011541142.1:p.Leu2231SerfsTer6
XM_011542841.1:c.6691_6692insCTTTT (ATM)	XP_011541143.1:p.Leu2231SerfsTer6
XM_011542842.1:c.6526_6527insCTTTT (ATM)	XP_011541144.1:p.Leu2176SerfsTer6
XM_011542843.1:c.6691_6692insCTTTT (ATM)	XP_011541145.1:p.Leu2231SerfsTer6
XM_011542844.1:c.5647_5648insCTTTT (ATM)	XP_011541146.1:p.Leu1883SerfsTer6
XM_011542845.1:c.5383_5384insCTTTT (ATM)	XP_011541147.1:p.Leu1795SerfsTer6
XM_011542847.1:c.1762_1763insCTTTT (ATM)	XP_011541149.1:p.Leu588SerfsTer6
NM_001330368.1:c.641-16355_641-16354insAGAAA (C11orf65)	NP_001317297.1:n.641-16355_641-16354insAGAAA
NM_001351110.1:c.*38+9794_*38+9795insAGAAA (C11orf65)	NP_001338039.1:n.*38+9794_*38+9795insAGAAA
NM_001351834.1:c.6691_6692insCTTTT (ATM)	NP_001338763.1:p.Leu2231SerfsTer6
XM_005271562.5:c.6691_6692insCTTTT (ATM)	XP_005271619.2:p.Leu2231SerfsTer6
XM_006718843.4:c.6691_6692insCTTTT (ATM)	XP_006718906.1:p.Leu2231SerfsTer6
XM_006718845.2:c.2647_2648insCTTTT (ATM)	XP_006718908.1:p.Leu883SerfsTer6
XM_011542840.3:c.6691_6692insCTTTT (ATM)	XP_011541142.1:p.Leu2231SerfsTer6
XM_011542842.3:c.6526_6527insCTTTT (ATM)	XP_011541144.1:p.Leu2176SerfsTer6
XM_011542843.2:c.6691_6692insCTTTT (ATM)	XP_011541145.1:p.Leu2231SerfsTer6
XM_011542844.3:c.5647_5648insCTTTT (ATM)	XP_011541146.1:p.Leu1883SerfsTer6
XM_011542845.2:c.5383_5384insCTTTT (ATM)	XP_011541147.1:p.Leu1795SerfsTer6
XM_017017789.2:c.6691_6692insCTTTT (ATM)	XP_016873278.1:p.Leu2231SerfsTer6
XM_017017790.2:c.6691_6692insCTTTT (ATM)	XP_016873279.1:p.Leu2231SerfsTer6
NM_001330368.2:c.641-16355_641-16354insAGAAA (C11orf65)	NP_001317297.1:n.641-16355_641-16354insAGAAA
NM_001351110.2:c.*38+9794_*38+9795insAGAAA (C11orf65)	NP_001338039.1:n.*38+9794_*38+9795insAGAAA
NM_001351834.2:c.6691_6692insCTTTT (ATM)	NP_001338763.1:p.Leu2231SerfsTer6
NM_000051.4:c.6691_6692insCTTTT (ATM) MANE Select	NP_000042.3:p.Leu2231SerfsTer6