Linked Data
dbSNP Id:
rs113893121
ExAC:
6:31323962 C / CTT
gnomAD v2:
6-31323962-C-CTT
gnomAD v3:
6-31356185-C-CTT
gnomAD v4:
6-31356185-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356185_31356186insTT , CM000668.2:g.31356185_31356186insTT | GRCh38 |
| NC_000006.11:g.31323962_31323963insTT , CM000668.1:g.31323962_31323963insTT | GRCh37 |
| NC_000006.10:g.31431941_31431942insTT | NCBI36 |
| NG_023187.1:g.6027_6028insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2073_2074insAA | ||
| ENST00000481849.6:n.2073_2074insAA | ||
| ENST00000497377.6:n.2073_2074insAA | ||
| ENST00000640094.2:c.600_601insAA | ENSP00000491275.2:p.Asp201LysfsTer14 | |
| ENST00000696558.1:c.600_601insAA | ENSP00000512716.1:p.Asp201LysfsTer? | |
| ENST00000696559.1:c.600_601insAA | ENSP00000512717.1:p.Asp201LysfsTer14 | |
| ENST00000696560.1:c.600_601insAA | ENSP00000512718.1:p.Asp201LysfsTer14 | |
| ENST00000696561.1:c.600_601insAA | ENSP00000512719.1:p.Asp201LysfsTer14 | |
| ENST00000696562.1:c.600_601insAA | ENSP00000512720.1:p.Asp201LysfsTer14 | |
| ENST00000412585.7:c.600_601insAA MANE Select | ENSP00000399168.2:p.Asp201LysfsTer14 | |
| ENST00000412585.6:c.600_601insAA | ENSP00000399168.2:p.Asp201LysfsTer14 | |
| ENST00000434333.1:c.633_634insAA | ENSP00000405931.1:p.Asp212LysfsTer14 | |
| ENST00000474381.1:n.475_476insAA | ||
| ENST00000498007.1:n.866_867insAA | ||
| NM_005514.6:c.600_601insAA | NP_005505.2:p.Asp201LysfsTer14 | |
| XM_011514556.1:c.633_634insAA | XP_011512858.1:p.Asp212LysfsTer14 | |
| XM_011514557.1:c.600_601insAA | XP_011512859.1:p.Asp201LysfsTer14 | |
| XR_926175.1:n.610_611insAA | ||
| NM_005514.7:c.600_601insAA | NP_005505.2:p.Asp201LysfsTer14 | |
| NM_005514.8:c.600_601insAA MANE Select | NP_005505.2:p.Asp201LysfsTer14 |