Canonical Allele Identifier: CA645569708

Gene: ATM

Linked Data

• COSMIC: COSM5419120 ; COSM5419121

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289772_108289773dup , CM000673.2:g.108289772_108289773dup	GRCh38
NC_000011.9:g.108160499_108160500dup , CM000673.1:g.108160499_108160500dup	GRCh37
NC_000011.8:g.107665709_107665710dup	NCBI36
NG_009830.1:g.71941_71942dup , LRG_135:g.71941_71942dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4407_4408dup	ENSP00000388058.2:p.Tyr1470PhefsTer4
ENST00000713593.1:c.*3878_*3879dup	ENSP00000518889.1:n.*3878_*3879dup
ENST00000278616.9:c.4407_4408dup	ENSP00000278616.4:p.Tyr1470PhefsTer4
ENST00000533733.6:n.1670_1671dup
ENST00000683174.1:n.4557_4558dup
ENST00000527805.6:c.4407_4408dup	ENSP00000435747.2:p.Tyr1470PhefsTer4
ENST00000675595.1:c.4242_4243dup	ENSP00000502563.1:p.Tyr1415PhefsTer4
ENST00000675843.1:c.4407_4408dup MANE Select	ENSP00000501606.1:p.Tyr1470PhefsTer4
ENST00000278616.8:c.4407_4408dup	ENSP00000278616.4:p.Tyr1470PhefsTer4
ENST00000452508.6:c.4407_4408dup	ENSP00000388058.2:p.Tyr1470PhefsTer4
ENST00000524792.5:n.622_623dup
ENST00000531525.2:c.414_415dup	ENSP00000434327.2:p.Tyr139PhefsTer4
ENST00000533733.5:n.836_837dup
NM_000051.3:c.4407_4408dup , LRG_135t1:c.4407_4408dup	NP_000042.3:p.Tyr1470PhefsTer4
XM_005271561.3:c.4407_4408dup	XP_005271618.2:p.Tyr1470PhefsTer4
XM_005271562.3:c.4407_4408dup	XP_005271619.2:p.Tyr1470PhefsTer4
XM_006718843.2:c.4407_4408dup	XP_006718906.1:p.Tyr1470PhefsTer4
XM_006718845.1:c.363_364dup	XP_006718908.1:p.Tyr122PhefsTer4
XM_011542840.1:c.4407_4408dup	XP_011541142.1:p.Tyr1470PhefsTer4
XM_011542841.1:c.4407_4408dup	XP_011541143.1:p.Tyr1470PhefsTer4
XM_011542842.1:c.4242_4243dup	XP_011541144.1:p.Tyr1415PhefsTer4
XM_011542843.1:c.4407_4408dup	XP_011541145.1:p.Tyr1470PhefsTer4
XM_011542844.1:c.3363_3364dup	XP_011541146.1:p.Tyr1122PhefsTer4
XM_011542845.1:c.3099_3100dup	XP_011541147.1:p.Tyr1034PhefsTer4
XM_011542846.1:c.4407_4408dup	XP_011541148.1:p.Tyr1470PhefsTer4
NM_001351834.1:c.4407_4408dup	NP_001338763.1:p.Tyr1470PhefsTer4
XM_005271562.5:c.4407_4408dup	XP_005271619.2:p.Tyr1470PhefsTer4
XM_006718843.4:c.4407_4408dup	XP_006718906.1:p.Tyr1470PhefsTer4
XM_006718845.2:c.363_364dup	XP_006718908.1:p.Tyr122PhefsTer4
XM_011542840.3:c.4407_4408dup	XP_011541142.1:p.Tyr1470PhefsTer4
XM_011542842.3:c.4242_4243dup	XP_011541144.1:p.Tyr1415PhefsTer4
XM_011542843.2:c.4407_4408dup	XP_011541145.1:p.Tyr1470PhefsTer4
XM_011542844.3:c.3363_3364dup	XP_011541146.1:p.Tyr1122PhefsTer4
XM_011542845.2:c.3099_3100dup	XP_011541147.1:p.Tyr1034PhefsTer4
XM_017017789.2:c.4407_4408dup	XP_016873278.1:p.Tyr1470PhefsTer4
XM_017017790.2:c.4407_4408dup	XP_016873279.1:p.Tyr1470PhefsTer4
XM_017017791.1:c.4407_4408dup	XP_016873280.1:p.Tyr1470PhefsTer4
XM_017017792.2:c.4407_4408dup	XP_016873281.1:p.Tyr1470PhefsTer4
XR_002957150.1:n.5140_5141dup
NM_001351834.2:c.4407_4408dup	NP_001338763.1:p.Tyr1470PhefsTer4
NM_000051.4:c.4407_4408dup MANE Select	NP_000042.3:p.Tyr1470PhefsTer4