LDH info

Canonical Allele Identifier: CA016983
Gene: LMNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66803
dbSNP Id: rs267607577

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136360_156136363dup , CM000663.2:g.156136360_156136363dup GRCh38
NC_000001.10:g.156106151_156106154dup , CM000663.1:g.156106151_156106154dup GRCh37
NC_000001.9:g.154372775_154372778dup NCBI36
NG_008692.2:g.58788_58791dup , LRG_254:g.58788_58791dup

Transcript Alleles

HGVS Amino-acid change
NM_001257374.2:c.968_971dup VV NP_001244303.1:p.Ser325HisfsTer2
NM_001282624.1:c.1061_1064dup VV NP_001269553.1:p.Ser356HisfsTer2
NM_001282625.1:c.1304_1307dup VV NP_001269554.1:p.Ser437HisfsTer2
NM_001282626.1:c.1304_1307dup VV NP_001269555.1:p.Ser437HisfsTer2
NM_005572.3:c.1304_1307dup , LRG_254t1:c.1304_1307dup NP_005563.1:p.Ser437HisfsTer2
NM_170707.3:c.1304_1307dup VV NP_733821.1:p.Ser437HisfsTer2
NM_170708.3:c.1304_1307dup VV NP_733822.1:p.Ser437HisfsTer2
XM_011509533.1:c.968_971dup XP_011507835.1:p.Ser325HisfsTer2
XM_011509534.1:c.680_683dup XP_011507836.1:p.Ser229HisfsTer2
XR_921781.1:n.1593_1596dup
XM_011509534.2:c.680_683dup XP_011507836.1:p.Ser229HisfsTer2
XR_921781.2:n.1591_1594dup
NM_170707.4:c.1304_1307dup VV MANE Preferred NP_733821.1:p.Ser437HisfsTer2
ENST00000347559.6:c.1304_1307dup ENSP00000292304.3:p.Ser437HisfsTer2
ENST00000361308.8:c.1304_1307dup ENSP00000355292.5:p.Ser437HisfsTer2
ENST00000368297.5:c.1061_1064dup ENSP00000357280.1:p.Ser356HisfsTer2
ENST00000368298.2:n.568_571dup
ENST00000368299.7:c.1304_1307dup ENSP00000357282.3:p.Ser437HisfsTer2
ENST00000368300.8:c.1304_1307dup ENSP00000357283.4:p.Ser437HisfsTer2
ENST00000368301.6:c.1304_1307dup ENSP00000357284.2:p.Ser437HisfsTer2
ENST00000448611.6:c.968_971dup ENSP00000395597.2:p.Ser325HisfsTer2
ENST00000459904.1:n.68_71dup
ENST00000473598.6:c.1007_1010dup ENSP00000421821.1:p.Ser338HisfsTer2
ENST00000496738.5:n.689_692dup
ENST00000498722.2:n.536_539dup
ENST00000508500.1:n.182_185dup ENSP00000424977.1:p.Ser63HisfsTer2