Linked Data
dbSNP Id:
rs1387897335
gnomAD v2:
2-208994390-GTCC-G
gnomAD v3:
2-208129666-GTCC-G
gnomAD v4:
2-208129666-GTCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129669_208129671del , CM000664.2:g.208129669_208129671del | GRCh38 |
| NC_000002.11:g.208994393_208994395del , CM000664.1:g.208994393_208994395del | GRCh37 |
| NC_000002.10:g.208702638_208702640del | NCBI36 |
| NG_008038.1:g.5162_5164del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.24_26del MANE Select | ENSP00000282141.3:p.Glu8del | |
| ENST00000282141.3:c.24_26del | ENSP00000282141.3:p.Glu8del | |
| NM_020989.3:c.24_26del | NP_066269.1:p.Glu8del | |
| NR_038437.1:n.98-7387_98-7385del | ||
| XM_011510661.1:c.24_26del | XP_011508963.1:p.Glu8del | |
| XM_011510662.1:c.24_26del | XP_011508964.1:p.Glu8del | |
| XM_011510663.1:c.-106_-104del | XP_011508965.1:n.-106_-104del | |
| NM_020989.4:c.24_26del MANE Select | NP_066269.1:p.Glu8del |