LDH info

Canonical Allele Identifier: CA008769
Gene: APC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 816
dbSNP Id: rs121913224

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839521_112839525del , CM000667.2:g.112839521_112839525del GRCh38
NC_000005.9:g.112175218_112175222del , CM000667.1:g.112175218_112175222del GRCh37
NC_000005.8:g.112203117_112203121del NCBI36
NG_008481.4:g.152001_152005del , LRG_130:g.152001_152005del

Transcript Alleles

HGVS Amino-acid change
NM_000038.5:c.3927_3931del VV NP_000029.2:p.Glu1309AspfsTer4
NM_001127510.2:c.3927_3931del VV NP_001120982.1:p.Glu1309AspfsTer4
NM_001127511.2:c.3873_3877del VV NP_001120983.2:p.Glu1291AspfsTer4
NM_001354895.1:c.3927_3931del VV NP_001341824.1:p.Glu1309AspfsTer4
NM_001354896.1:c.3981_3985del VV NP_001341825.1:p.Glu1327AspfsTer4
NM_001354897.1:c.3957_3961del VV NP_001341826.1:p.Glu1319AspfsTer4
NM_001354898.1:c.3852_3856del VV NP_001341827.1:p.Glu1284AspfsTer4
NM_001354899.1:c.3843_3847del VV NP_001341828.1:p.Glu1281AspfsTer4
NM_001354900.1:c.3804_3808del VV NP_001341829.1:p.Glu1268AspfsTer4
NM_001354901.1:c.3750_3754del VV NP_001341830.1:p.Glu1250AspfsTer4
NM_001354902.1:c.3654_3658del VV NP_001341831.1:p.Glu1218AspfsTer4
NM_001354903.1:c.3624_3628del VV NP_001341832.1:p.Glu1208AspfsTer4
NM_001354904.1:c.3549_3553del VV NP_001341833.1:p.Glu1183AspfsTer4
NM_001354905.1:c.3447_3451del VV NP_001341834.1:p.Glu1149AspfsTer4
NM_001354906.1:c.3078_3082del VV NP_001341835.1:p.Glu1026AspfsTer4
NM_000038.6:c.3927_3931del VV MANE Preferred NP_000029.2:p.Glu1309AspfsTer4
NM_001127510.3:c.3927_3931del VV NP_001120982.1:p.Glu1309AspfsTer4
NM_001127511.3:c.3873_3877del VV NP_001120983.2:p.Glu1291AspfsTer4
NM_001354895.2:c.3927_3931del VV NP_001341824.1:p.Glu1309AspfsTer4
NM_001354896.2:c.3981_3985del VV NP_001341825.1:p.Glu1327AspfsTer4
NM_001354897.2:c.3957_3961del VV NP_001341826.1:p.Glu1319AspfsTer4
NM_001354898.2:c.3852_3856del VV NP_001341827.1:p.Glu1284AspfsTer4
NM_001354899.2:c.3843_3847del VV NP_001341828.1:p.Glu1281AspfsTer4
NM_001354900.2:c.3804_3808del VV NP_001341829.1:p.Glu1268AspfsTer4
NM_001354901.2:c.3750_3754del VV NP_001341830.1:p.Glu1250AspfsTer4
NM_001354902.2:c.3654_3658del VV NP_001341831.1:p.Glu1218AspfsTer4
NM_001354903.2:c.3624_3628del VV NP_001341832.1:p.Glu1208AspfsTer4
NM_001354904.2:c.3549_3553del VV NP_001341833.1:p.Glu1183AspfsTer4
NM_001354905.2:c.3447_3451del VV NP_001341834.1:p.Glu1149AspfsTer4
NM_001354906.2:c.3078_3082del VV NP_001341835.1:p.Glu1026AspfsTer4
ENST00000257430.8:c.3927_3931del ENSP00000257430.4:p.Glu1309AspfsTer4
ENST00000502371.2:n.2280_2284del
ENST00000508376.6:c.3927_3931del ENSP00000427089.2:p.Glu1309AspfsTer4
ENST00000508624.5:c.*3249_*3253del ENSP00000424265.1:p.=
ENST00000520401.1:n.230+10549_230+10553del