Canonical Allele Identifier: CA912970723

Gene: ATM

Linked Data

• MyVariant Identifiers: chr11:g.108121496_108121497del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250769_108250770del , CM000673.2:g.108250769_108250770del	GRCh38
NC_000011.9:g.108121496_108121497del , CM000673.1:g.108121496_108121497del	GRCh37
NC_000011.8:g.107626706_107626707del	NCBI36
NG_009830.1:g.32938_32939del , LRG_135:g.32938_32939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1304_1305del	ENSP00000388058.2:p.Leu435SerfsTer?
ENST00000713593.1:c.*775_*776del	ENSP00000518889.1:n.*775_*776del
ENST00000278616.9:c.1304_1305del	ENSP00000278616.4:p.Leu435SerfsTer?
ENST00000682516.1:n.1438_1439del
ENST00000682956.1:n.1438_1439del
ENST00000683174.1:n.1454_1455del
ENST00000683605.1:n.799_800del
ENST00000684037.1:c.*239_*240del	ENSP00000508245.1:n.*239_*240del
ENST00000684061.1:n.1438_1439del
ENST00000684179.1:n.1273_1274del
ENST00000527805.6:c.1304_1305del	ENSP00000435747.2:p.Leu435SerfsTer?
ENST00000675595.1:c.1139_1140del	ENSP00000502563.1:p.Leu380SerfsTer?
ENST00000675843.1:c.1304_1305del MANE Select	ENSP00000501606.1:p.Leu435SerfsTer?
ENST00000278616.8:c.1304_1305del	ENSP00000278616.4:p.Leu435SerfsTer?
ENST00000452508.6:c.1304_1305del	ENSP00000388058.2:p.Leu435SerfsTer?
ENST00000527805.5:c.1304_1305del	ENSP00000435747.1:p.Leu435SerfsTer?
NM_000051.3:c.1304_1305del , LRG_135t1:c.1304_1305del	NP_000042.3:p.Leu435SerfsTer?
XM_005271561.3:c.1304_1305del	XP_005271618.2:p.Leu435SerfsTer?
XM_005271562.3:c.1304_1305del	XP_005271619.2:p.Leu435SerfsTer?
XM_006718843.2:c.1304_1305del	XP_006718906.1:p.Leu435SerfsTer?
XM_011542840.1:c.1304_1305del	XP_011541142.1:p.Leu435SerfsTer?
XM_011542841.1:c.1304_1305del	XP_011541143.1:p.Leu435SerfsTer?
XM_011542842.1:c.1139_1140del	XP_011541144.1:p.Leu380SerfsTer?
XM_011542843.1:c.1304_1305del	XP_011541145.1:p.Leu435SerfsTer?
XM_011542844.1:c.260_261del	XP_011541146.1:p.Leu87SerfsTer?
XM_011542845.1:c.-5_-4del	XP_011541147.1:n.-5_-4del
XM_011542846.1:c.1304_1305del	XP_011541148.1:p.Leu435SerfsTer?
NM_001351834.1:c.1304_1305del	NP_001338763.1:p.Leu435SerfsTer?
XM_005271562.5:c.1304_1305del	XP_005271619.2:p.Leu435SerfsTer?
XM_006718843.4:c.1304_1305del	XP_006718906.1:p.Leu435SerfsTer?
XM_011542840.3:c.1304_1305del	XP_011541142.1:p.Leu435SerfsTer?
XM_011542842.3:c.1139_1140del	XP_011541144.1:p.Leu380SerfsTer?
XM_011542843.2:c.1304_1305del	XP_011541145.1:p.Leu435SerfsTer?
XM_011542844.3:c.260_261del	XP_011541146.1:p.Leu87SerfsTer?
XM_011542845.2:c.-5_-4del	XP_011541147.1:n.-5_-4del
XM_017017789.2:c.1304_1305del	XP_016873278.1:p.Leu435SerfsTer?
XM_017017790.2:c.1304_1305del	XP_016873279.1:p.Leu435SerfsTer?
XM_017017791.1:c.1304_1305del	XP_016873280.1:p.Leu435SerfsTer?
XM_017017792.2:c.1304_1305del	XP_016873281.1:p.Leu435SerfsTer?
XR_002957150.1:n.2037_2038del
NM_001351834.2:c.1304_1305del	NP_001338763.1:p.Leu435SerfsTer?
NM_000051.4:c.1304_1305del MANE Select	NP_000042.3:p.Leu435SerfsTer?