Canonical Allele Identifier: CA2712941522
Gene: L3MBTL3 HGNC NCBI

Linked Data

dbSNP Id: rs2114468325

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.130024612_130024653del , CM000668.2:g.130024612_130024653del GRCh38
NC_000006.11:g.130345757_130345798del , CM000668.1:g.130345757_130345798del GRCh37
NC_000006.10:g.130387450_130387491del NCBI36
NG_051942.1:g.11244_11285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361794.7:c.-16+2307_-16+2348del MANE Select ENSP00000354526.2:n.-16+2307_-16+2348del
ENST00000368136.3:c.-16+2307_-16+2348del ENSP00000357118.2:n.-16+2307_-16+2348del
ENST00000674039.1:c.-16+2307_-16+2348del ENSP00000501028.1:n.-16+2307_-16+2348del
ENST00000361794.6:c.-16+2307_-16+2348del ENSP00000354526.2:n.-16+2307_-16+2348del
ENST00000368136.2:c.-16+2307_-16+2348del ENSP00000357118.2:n.-16+2307_-16+2348del
ENST00000368139.6:c.-16+3944_-16+3985del ENSP00000357121.2:n.-16+3944_-16+3985del
ENST00000526019.5:c.-16+2307_-16+2348del ENSP00000436706.1:n.-16+2307_-16+2348del
ENST00000526087.5:c.-16+2307_-16+2348del ENSP00000436617.1:n.-16+2307_-16+2348del
ENST00000528385.5:c.-16+2307_-16+2348del ENSP00000433257.1:n.-16+2307_-16+2348del
ENST00000529410.5:c.-16+2307_-16+2348del ENSP00000431962.1:n.-16+2307_-16+2348del
ENST00000533560.5:c.-16+2307_-16+2348del ENSP00000437185.1:n.-16+2307_-16+2348del
NM_001007102.2:c.-16+2307_-16+2348del NP_001007103.1:n.-16+2307_-16+2348del
NM_032438.2:c.-16+2307_-16+2348del NP_115814.1:n.-16+2307_-16+2348del
XM_005267161.3:c.-16+2307_-16+2348del XP_005267218.1:n.-16+2307_-16+2348del
XM_006715576.2:c.-16+2307_-16+2348del XP_006715639.1:n.-16+2307_-16+2348del
XM_006715578.2:c.-16+2307_-16+2348del XP_006715641.1:n.-16+2307_-16+2348del
XM_011536179.1:c.-16+2307_-16+2348del XP_011534481.1:n.-16+2307_-16+2348del
XM_011536180.1:c.-16+2307_-16+2348del XP_011534482.1:n.-16+2307_-16+2348del
XM_011536181.1:c.-16+2307_-16+2348del XP_011534483.1:n.-16+2307_-16+2348del
XM_011536182.1:c.-16+2307_-16+2348del XP_011534484.1:n.-16+2307_-16+2348del
XM_011536183.1:c.-16+2307_-16+2348del XP_011534485.1:n.-16+2307_-16+2348del
XM_011536184.1:c.-16+2307_-16+2348del XP_011534486.1:n.-16+2307_-16+2348del
NM_001007102.3:c.-16+2307_-16+2348del NP_001007103.1:n.-16+2307_-16+2348del
NM_001346550.1:c.-16+2307_-16+2348del NP_001333479.1:n.-16+2307_-16+2348del
NM_001346551.1:c.-16+2307_-16+2348del NP_001333480.1:n.-16+2307_-16+2348del
NM_032438.3:c.-16+2307_-16+2348del NP_115814.1:n.-16+2307_-16+2348del
XM_005267161.4:c.-16+2307_-16+2348del XP_005267218.1:n.-16+2307_-16+2348del
XM_006715576.3:c.-16+2307_-16+2348del XP_006715639.1:n.-16+2307_-16+2348del
XM_006715578.3:c.-16+2307_-16+2348del XP_006715641.1:n.-16+2307_-16+2348del
XM_011536179.3:c.-16+2307_-16+2348del XP_011534481.1:n.-16+2307_-16+2348del
XM_011536180.2:c.-16+2307_-16+2348del XP_011534482.1:n.-16+2307_-16+2348del
XM_011536181.2:c.-16+2307_-16+2348del XP_011534483.1:n.-16+2307_-16+2348del
XM_011536183.2:c.-16+2307_-16+2348del XP_011534485.1:n.-16+2307_-16+2348del
XM_011536184.2:c.-16+2307_-16+2348del XP_011534486.1:n.-16+2307_-16+2348del
NM_001007102.4:c.-16+2307_-16+2348del NP_001007103.1:n.-16+2307_-16+2348del
NM_032438.4:c.-16+2307_-16+2348del MANE Select NP_115814.1:n.-16+2307_-16+2348del
NM_001346550.2:c.-16+2307_-16+2348del NP_001333479.1:n.-16+2307_-16+2348del
NM_001346551.2:c.-16+2307_-16+2348del NP_001333480.1:n.-16+2307_-16+2348del