LDH info

Canonical Allele Identifier: CA261176
Gene: ADAMTSL4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 39555
dbSNP Id: rs199473693

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150553758_150553777del , CM000663.2:g.150553758_150553777del GRCh38
NC_000001.10:g.150526234_150526253del , CM000663.1:g.150526234_150526253del GRCh37
NC_000001.9:g.148792858_148792877del NCBI36
NG_012172.1:g.9337_9356del

Transcript Alleles

HGVS Amino-acid change
NM_001288607.1:c.767_786del VV NP_001275536.1:p.Gln256ProfsTer?
NM_001288608.1:c.767_786del VV NP_001275537.1:p.Gln256ProfsTer?
NM_019032.5:c.767_786del VV NP_061905.2:p.Gln256ProfsTer?
NM_025008.4:c.767_786del VV NP_079284.2:p.Gln256ProfsTer?
XM_011509644.1:c.866_885del XP_011507946.1:p.Gln289ProfsTer?
XM_011509645.1:c.866_885del XP_011507947.1:p.Gln289ProfsTer?
XM_011509646.1:c.767_786del XP_011507948.1:p.Gln256ProfsTer?
XM_011509647.1:c.767_786del XP_011507949.1:p.Gln256ProfsTer?
XM_011509648.1:c.767_786del XP_011507950.1:p.Gln256ProfsTer?
XM_011509649.1:c.866_885del XP_011507951.1:p.Gln289ProfsTer?
XM_011509650.1:c.866_885del XP_011507952.1:p.Gln289ProfsTer?
XR_921844.1:n.1051_1070del
XR_922132.1:n.370+766_370+785del
XR_922133.1:n.417+766_417+785del
XM_011509644.3:c.866_885del XP_011507946.1:p.Gln289ProfsTer?
XM_011509645.3:c.866_885del XP_011507947.1:p.Gln289ProfsTer?
XM_011509648.3:c.767_786del XP_011507950.1:p.Gln256ProfsTer?
XM_011509649.3:c.866_885del XP_011507951.1:p.Gln289ProfsTer?
XM_011509650.3:c.866_885del XP_011507952.1:p.Gln289ProfsTer?
XM_017001506.2:c.767_786del XP_016856995.1:p.Gln256ProfsTer?
XR_001737242.2:n.1024_1043del
XR_001738226.1:n.466+766_466+785del
XR_001738227.1:n.466+766_466+785del
XR_001738228.1:n.371+766_371+785del
XR_001738229.1:n.357+2185_357+2204del
XR_921844.3:n.1024_1043del
NM_001288607.2:c.767_786del VV NP_001275536.1:p.Gln256ProfsTer?
NM_025008.5:c.767_786del VV NP_079284.2:p.Gln256ProfsTer?
ENST00000271643.8:c.767_786del ENSP00000271643.4:p.Gln256ProfsTer?
ENST00000369038.6:c.767_786del ENSP00000358034.2:p.Gln256ProfsTer?
ENST00000369039.9:c.767_786del ENSP00000358035.5:p.Gln256ProfsTer?
ENST00000369041.9:c.767_786del ENSP00000358037.5:p.Gln256ProfsTer?