Linked Data
dbSNP Id:
rs1567409039
gnomAD v2:
16-75513041-T-TGGGCA
gnomAD v4:
16-75479143-T-TGGGCA
MyVariant Identifiers:
chr16:g.75513041_75513042insGGGCA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479143_75479144insGGGCA , CM000678.2:g.75479143_75479144insGGGCA | GRCh38 |
| NC_000016.9:g.75513041_75513042insGGGCA , CM000678.1:g.75513041_75513042insGGGCA | GRCh37 |
| NC_000016.8:g.74070542_74070543insGGGCA | NCBI36 |
| NG_016442.1:g.20885_20886insTGCCC | |
| NG_016442.2:g.21298_21299insTGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.685_686insTGCCC MANE Select | ENSP00000328983.4:p.Asn229MetfsTer? | |
| ENST00000390664.3:c.685_686insTGCCC | ENSP00000375079.2:p.Asn229MetfsTer? | |
| ENST00000649341.1:c.685_686insTGCCC | ENSP00000497635.1:p.Asn229MetfsTer? | |
| ENST00000649824.1:c.685_686insTGCCC | ENSP00000496806.1:p.Asn229MetfsTer? | |
| ENST00000332272.8:c.685_686insTGCCC | ENSP00000328983.4:p.Asn229MetfsTer? | |
| ENST00000390664.2:c.685_686insTGCCC | ENSP00000375079.2:p.Asn229MetfsTer? | |
| NM_021615.4:c.685_686insTGCCC | NP_067628.1:p.Asn229MetfsTer? | |
| XM_005255955.3:c.685_686insTGCCC | XP_005256012.1:p.Asn229MetfsTer? | |
| XM_011523085.1:c.685_686insTGCCC | XP_011521387.1:p.Asn229MetfsTer? | |
| NM_021615.5:c.685_686insTGCCC MANE Select | NP_067628.1:p.Asn229MetfsTer? | |
| XM_005255955.5:c.685_686insTGCCC | XP_005256012.1:p.Asn229MetfsTer? | |
| XM_011523085.3:c.685_686insTGCCC | XP_011521387.1:p.Asn229MetfsTer? | |
| NR_163480.1:n.733+2673_733+2674insTGCCC | ||
| NR_163481.1:n.577+2673_577+2674insTGCCC |