Canonical Allele Identifier: CA2725187176

Gene: ATM

Linked Data

• dbSNP Id: rs2135977324

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307951_108307952insATAAGG , CM000673.2:g.108307951_108307952insATAAGG	GRCh38
NC_000011.9:g.108178678_108178679insATAAGG , CM000673.1:g.108178678_108178679insATAAGG	GRCh37
NC_000011.8:g.107683888_107683889insATAAGG	NCBI36
NG_009830.1:g.90120_90121insATAAGG , LRG_135:g.90120_90121insATAAGG
NG_054724.1:g.166881_166882insCCTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5729_5730insATAAGG	ENSP00000388058.2:p.Leu1911Ter
ENST00000713593.1:c.*5200_*5201insATAAGG	ENSP00000518889.1:n.*5200_*5201insATAAGG
ENST00000278616.9:c.5729_5730insATAAGG	ENSP00000278616.4:p.Leu1911Ter
ENST00000525056.2:n.148_149insATAAGG
ENST00000682286.1:n.486_487insATAAGG
ENST00000682302.1:n.147_148insATAAGG
ENST00000683174.1:n.7213_7214insATAAGG
ENST00000683524.1:n.953_954insATAAGG
ENST00000684152.1:n.1443_1444insATAAGG
ENST00000527805.6:c.*793_*794insATAAGG	ENSP00000435747.2:n.*793_*794insATAAGG
ENST00000675595.1:c.*793_*794insATAAGG	ENSP00000502563.1:n.*793_*794insATAAGG
ENST00000675843.1:c.5729_5730insATAAGG MANE Select	ENSP00000501606.1:p.Leu1911Ter
ENST00000278616.8:c.5729_5730insATAAGG	ENSP00000278616.4:p.Leu1911Ter
ENST00000452508.6:c.5729_5730insATAAGG	ENSP00000388058.2:p.Leu1911Ter
ENST00000524792.5:n.1944_1945insATAAGG
ENST00000529588.5:c.187-2209_187-2208insATAAGG
ENST00000533690.5:n.1133_1134insATAAGG
NM_000051.3:c.5729_5730insATAAGG , LRG_135t1:c.5729_5730insATAAGG	NP_000042.3:p.Leu1911Ter
XM_005271561.3:c.5729_5730insATAAGG	XP_005271618.2:p.Leu1911Ter
XM_005271562.3:c.5729_5730insATAAGG	XP_005271619.2:p.Leu1911Ter
XM_006718843.2:c.5729_5730insATAAGG	XP_006718906.1:p.Leu1911Ter
XM_006718845.1:c.1685_1686insATAAGG	XP_006718908.1:p.Leu563Ter
XM_011542840.1:c.5729_5730insATAAGG	XP_011541142.1:p.Leu1911Ter
XM_011542841.1:c.5729_5730insATAAGG	XP_011541143.1:p.Leu1911Ter
XM_011542842.1:c.5564_5565insATAAGG	XP_011541144.1:p.Leu1856Ter
XM_011542843.1:c.5729_5730insATAAGG	XP_011541145.1:p.Leu1911Ter
XM_011542844.1:c.4685_4686insATAAGG	XP_011541146.1:p.Leu1563Ter
XM_011542845.1:c.4421_4422insATAAGG	XP_011541147.1:p.Leu1475Ter
XM_011542847.1:c.800_801insATAAGG	XP_011541149.1:p.Leu268Ter
NM_001351834.1:c.5729_5730insATAAGG	NP_001338763.1:p.Leu1911Ter
XM_005271562.5:c.5729_5730insATAAGG	XP_005271619.2:p.Leu1911Ter
XM_006718843.4:c.5729_5730insATAAGG	XP_006718906.1:p.Leu1911Ter
XM_006718845.2:c.1685_1686insATAAGG	XP_006718908.1:p.Leu563Ter
XM_011542840.3:c.5729_5730insATAAGG	XP_011541142.1:p.Leu1911Ter
XM_011542842.3:c.5564_5565insATAAGG	XP_011541144.1:p.Leu1856Ter
XM_011542843.2:c.5729_5730insATAAGG	XP_011541145.1:p.Leu1911Ter
XM_011542844.3:c.4685_4686insATAAGG	XP_011541146.1:p.Leu1563Ter
XM_011542845.2:c.4421_4422insATAAGG	XP_011541147.1:p.Leu1475Ter
XM_017017789.2:c.5729_5730insATAAGG	XP_016873278.1:p.Leu1911Ter
XM_017017790.2:c.5729_5730insATAAGG	XP_016873279.1:p.Leu1911Ter
XM_017017791.1:c.5729_5730insATAAGG	XP_016873280.1:p.Leu1911Ter
XR_002957150.1:n.6329_6330insATAAGG
NM_001351834.2:c.5729_5730insATAAGG	NP_001338763.1:p.Leu1911Ter
NM_000051.4:c.5729_5730insATAAGG MANE Select	NP_000042.3:p.Leu1911Ter