Linked Data
dbSNP Id:
rs752947510
ExAC:
2:48921328 AC / A
gnomAD v2:
2-48921328-AC-A
gnomAD v3:
2-48694189-AC-A
gnomAD v4:
2-48694189-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48694190del , CM000664.2:g.48694190del | GRCh38 |
| NC_000002.11:g.48921329del , CM000664.1:g.48921329del | GRCh37 |
| NC_000002.10:g.48774833del | NCBI36 |
| NG_008193.1:g.66552del | |
| NG_033050.1:g.169266del | |
| NG_008193.2:g.66552del | |
| NG_033050.2:g.169266del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.947+34del (LHCGR) MANE Select | ENSP00000294954.6:n.947+34del | |
| ENST00000294954.11:c.947+34del (LHCGR) | ENSP00000294954.6:n.947+34del | |
| ENST00000401907.5:c.947+34del (LHCGR) | ENSP00000385406.1:n.947+34del | |
| ENST00000402114.6:c.3441+22510del (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+22510del | |
| ENST00000403273.5:c.947+34del (LHCGR) | ENSP00000385847.1:n.947+34del | |
| ENST00000405626.5:c.866+4425del (LHCGR) | ENSP00000386033.1:n.866+4425del | |
| ENST00000508440.1:c.276+22510del (GTF2A1L) | ENSP00000421474.1:n.276+22510del | |
| ENST00000602369.3:c.*220+34del | ENSP00000473498.1:n.*220+34del | |
| NM_000233.3:c.947+34del (LHCGR) | NP_000224.2:n.947+34del | |
| NM_001198593.1:c.3441+22510del (STON1-GTF2A1L) | NP_001185522.1:n.3441+22510del | |
| XM_005264309.2:c.-11+51del (LHCGR) | XP_005264366.1:n.-11+51del | |
| XM_006712015.2:c.-926del (LHCGR) | XP_006712078.1:n.-926del | |
| XM_011532828.1:c.872+34del (LHCGR) | XP_011531130.1:n.872+34del | |
| XM_011532829.1:c.686+34del (LHCGR) | XP_011531131.1:n.686+34del | |
| XM_011532830.1:c.606-5341del (LHCGR) | XP_011531132.1:n.606-5341del | |
| XM_011532831.1:c.311+34del (LHCGR) | XP_011531133.1:n.311+34del | |
| XM_011532832.1:c.-493del (LHCGR) | XP_011531134.1:n.-493del | |
| XM_011532833.1:c.-489del (LHCGR) | XP_011531135.1:n.-489del | |
| XM_011532834.1:c.-295del (LHCGR) | XP_011531136.1:n.-295del | |
| XM_005264309.3:c.-11+51del (LHCGR) | XP_005264366.1:n.-11+51del | |
| XM_006712015.3:c.-926del (LHCGR) | XP_006712078.1:n.-926del | |
| XM_011532834.2:c.-295del (LHCGR) | XP_011531136.1:n.-295del | |
| XM_017004089.1:c.692+34del (LHCGR) | XP_016859578.1:n.692+34del | |
| XM_017004090.1:c.311+34del (LHCGR) | XP_016859579.1:n.311+34del | |
| NM_000233.4:c.947+34del (LHCGR) MANE Select | NP_000224.2:n.947+34del | |
| NM_001198593.2:c.3441+22510del (STON1-GTF2A1L) | NP_001185522.1:n.3441+22510del |