Canonical Allele Identifier: CA2580083217

Gene: ATM

Linked Data

• ClinVar Variation Id: 1926595
• ClinVar RCV Id: RCV002630739

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244113_108244114delinsCA , CM000673.2:g.108244113_108244114delinsCA	GRCh38
NC_000011.9:g.108114840_108114841delinsCA , CM000673.1:g.108114840_108114841delinsCA	GRCh37
NC_000011.8:g.107620050_107620051delinsCA	NCBI36
NG_009830.1:g.26282_26283delinsCA , LRG_135:g.26282_26283delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.657_658delinsCA	ENSP00000388058.2:p.Ala220Thr
ENST00000713593.1:c.*128_*129delinsCA	ENSP00000518889.1:n.*128_*129delinsCA
ENST00000278616.9:c.657_658delinsCA	ENSP00000278616.4:p.Ala220Thr
ENST00000682430.1:n.756_757delinsCA
ENST00000682516.1:n.791_792delinsCA
ENST00000682956.1:n.791_792delinsCA
ENST00000683100.1:n.2335_2336delinsCA
ENST00000683174.1:n.807_808delinsCA
ENST00000683605.1:n.152_153delinsCA
ENST00000684037.1:c.657_658delinsCA	ENSP00000508245.1:p.Ala220Thr
ENST00000684061.1:n.791_792delinsCA
ENST00000684179.1:n.626_627delinsCA
ENST00000527805.6:c.657_658delinsCA	ENSP00000435747.2:p.Ala220Thr
ENST00000675595.1:c.492_493delinsCA	ENSP00000502563.1:p.Ala165Thr
ENST00000675843.1:c.657_658delinsCA MANE Select	ENSP00000501606.1:p.Ala220Thr
ENST00000278616.8:c.657_658delinsCA	ENSP00000278616.4:p.Ala220Thr
ENST00000452508.6:c.657_658delinsCA	ENSP00000388058.2:p.Ala220Thr
ENST00000527805.5:c.657_658delinsCA	ENSP00000435747.1:p.Ala220Thr
NM_000051.3:c.657_658delinsCA , LRG_135t1:c.657_658delinsCA	NP_000042.3:p.Ala220Thr
XM_005271561.3:c.657_658delinsCA	XP_005271618.2:p.Ala220Thr
XM_005271562.3:c.657_658delinsCA	XP_005271619.2:p.Ala220Thr
XM_006718843.2:c.657_658delinsCA	XP_006718906.1:p.Ala220Thr
XM_011542840.1:c.657_658delinsCA	XP_011541142.1:p.Ala220Thr
XM_011542841.1:c.657_658delinsCA	XP_011541143.1:p.Ala220Thr
XM_011542842.1:c.492_493delinsCA	XP_011541144.1:p.Ala165Thr
XM_011542843.1:c.657_658delinsCA	XP_011541145.1:p.Ala220Thr
XM_011542844.1:c.-388_-387delinsCA	XP_011541146.1:n.-388_-387delinsCA
XM_011542846.1:c.657_658delinsCA	XP_011541148.1:p.Ala220Thr
NM_001351834.1:c.657_658delinsCA	NP_001338763.1:p.Ala220Thr
XM_005271562.5:c.657_658delinsCA	XP_005271619.2:p.Ala220Thr
XM_006718843.4:c.657_658delinsCA	XP_006718906.1:p.Ala220Thr
XM_011542840.3:c.657_658delinsCA	XP_011541142.1:p.Ala220Thr
XM_011542842.3:c.492_493delinsCA	XP_011541144.1:p.Ala165Thr
XM_011542843.2:c.657_658delinsCA	XP_011541145.1:p.Ala220Thr
XM_011542844.3:c.-388_-387delinsCA	XP_011541146.1:n.-388_-387delinsCA
XM_017017789.2:c.657_658delinsCA	XP_016873278.1:p.Ala220Thr
XM_017017790.2:c.657_658delinsCA	XP_016873279.1:p.Ala220Thr
XM_017017791.1:c.657_658delinsCA	XP_016873280.1:p.Ala220Thr
XM_017017792.2:c.657_658delinsCA	XP_016873281.1:p.Ala220Thr
XR_002957150.1:n.1390_1391delinsCA
NM_001351834.2:c.657_658delinsCA	NP_001338763.1:p.Ala220Thr
NM_000051.4:c.657_658delinsCA MANE Select	NP_000042.3:p.Ala220Thr