LDH info

Canonical Allele Identifier: CA16041416
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370504
ClinVar RCV Id: RCV000409046
dbSNP Id: rs1057516540

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302849_108302856del , CM000673.2:g.108302849_108302856del GRCh38
NC_000011.9:g.108173576_108173583del , CM000673.1:g.108173576_108173583del GRCh37
NC_000011.8:g.107678786_107678793del NCBI36
NG_009830.1:g.85018_85025del , LRG_135:g.85018_85025del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.5320-4_5323del , LRG_135t1:c.5320-4_5323del
XM_005271561.3:c.5320-4_5323del
XM_005271562.3:c.5320-4_5323del
XM_006718843.2:c.5320-4_5323del
XM_006718845.1:c.1276-4_1279del
XM_011542840.1:c.5320-4_5323del
XM_011542841.1:c.5320-4_5323del
XM_011542842.1:c.5155-4_5158del
XM_011542843.1:c.5320-4_5323del
XM_011542844.1:c.4276-4_4279del
XM_011542845.1:c.4012-4_4015del
XM_011542846.1:c.5319-2_5324del
XM_011542847.1:c.391-4_394del
NM_001351834.1:c.5320-4_5323del VV
XM_005271562.5:c.5320-4_5323del
XM_006718843.4:c.5320-4_5323del
XM_006718845.2:c.1276-4_1279del
XM_011542840.3:c.5320-4_5323del
XM_011542842.3:c.5155-4_5158del
XM_011542843.2:c.5320-4_5323del
XM_011542844.3:c.4276-4_4279del
XM_011542845.2:c.4012-4_4015del
XM_017017789.2:c.5320-4_5323del
XM_017017790.2:c.5320-4_5323del
XM_017017791.1:c.5320-4_5323del
XM_017017792.2:c.*1-4_*4del
XR_002957150.1:n.5920-4_5923del
NM_001351834.2:c.5320-4_5323del VV
ENST00000278616.8:c.5320-4_5323del
ENST00000452508.6:c.5320-4_5323del
ENST00000524792.5:n.1535-4_1538del
ENST00000533690.5:n.724-4_727del
ENST00000534625.1:n.549-4_552del