Linked Data
dbSNP Id:
rs1382001904
gnomAD v2:
3-128780667-CTGGAAACCA-C
gnomAD v3:
3-129061824-CTGGAAACCA-C
gnomAD v4:
3-129061824-CTGGAAACCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061828_129061836del , CM000665.2:g.129061828_129061836del | GRCh38 |
| NC_000003.11:g.128780671_128780679del , CM000665.1:g.128780671_128780679del | GRCh37 |
| NC_000003.10:g.130263361_130263369del | NCBI36 |
| NG_008715.1:g.6027_6035del , LRG_477:g.6027_6035del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.89_97del MANE Select | ENSP00000303942.4:p.Glu30_Met32del | |
| ENST00000307395.4:c.89_97del | ENSP00000303942.4:p.Glu30_Met32del | |
| NM_000174.4:c.89_97del , LRG_477t1:c.89_97del | NP_000165.1:p.Glu30_Met32del | |
| XM_005247374.3:c.89_97del | XP_005247431.1:p.Glu30_Met32del | |
| XM_011512701.1:c.89_97del | XP_011511003.1:p.Glu30_Met32del | |
| XM_011512702.1:c.89_97del | XP_011511004.1:p.Glu30_Met32del | |
| NM_000174.5:c.89_97del MANE Select | NP_000165.1:p.Glu30_Met32del |