Linked Data
dbSNP Id:
rs1261709526
gnomAD v2:
3-165548780-AAAGAG-A
gnomAD v3:
3-165830992-AAAGAG-A
gnomAD v4:
3-165830992-AAAGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830995_165830999del , CM000665.2:g.165830995_165830999del | GRCh38 |
| NC_000003.11:g.165548783_165548787del , CM000665.1:g.165548783_165548787del | GRCh37 |
| NC_000003.10:g.167031477_167031481del | NCBI36 |
| NG_009031.1:g.11469_11473del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.37_41del MANE Select | ENSP00000264381.3:p.Phe14ValfsTer14 | |
| ENST00000264381.7:c.37_41del | ENSP00000264381.3:p.Phe14ValfsTer14 | |
| ENST00000479451.5:c.107+6317_107+6321del | ENSP00000418325.1:n.107+6317_107+6321del | |
| ENST00000482958.1:c.37_41del | ENSP00000419804.1:p.Phe14ValfsTer14 | |
| ENST00000488954.1:c.107+6317_107+6321del | ENSP00000418504.1:n.107+6317_107+6321del | |
| ENST00000497011.5:c.37_41del | ENSP00000419505.1:p.Phe14ValfsTer14 | |
| NM_000055.2:c.37_41del | NP_000046.1:p.Phe14ValfsTer14 | |
| XM_005247685.1:c.160_164del | XP_005247742.1:p.Phe55ValfsTer14 | |
| NM_000055.3:c.37_41del | NP_000046.1:p.Phe14ValfsTer14 | |
| NR_137635.1:n.159+6317_159+6321del | ||
| NR_137636.1:n.204_208del | ||
| NM_000055.4:c.37_41del MANE Select | NP_000046.1:p.Phe14ValfsTer14 | |
| NR_137635.2:n.110+6317_110+6321del | ||
| NR_137636.2:n.155_159del |