Linked Data
dbSNP Id:
rs532716456
gnomAD v2:
11-102661662-TG-T
gnomAD v3:
11-102790931-TG-T
gnomAD v4:
11-102790931-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102790935del , CM000673.2:g.102790935del | GRCh38 |
| NC_000011.9:g.102661666del , CM000673.1:g.102661666del | GRCh37 |
| NC_000011.8:g.102166876del | NCBI36 |
| NG_011740.1:g.12304del | |
| NG_011740.2:g.12304del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000315274.7:c.1197-126del (MMP1) MANE Select | ENSP00000322788.6:n.1197-126del | |
| ENST00000680179.1:n.375-126del (MMP1) | ||
| ENST00000681445.1:n.371-126del (MMP1) | ||
| ENST00000681643.1:n.397-126del (MMP1) | ||
| ENST00000315274.6:c.1197-126del (MMP1) | ENSP00000322788.6:n.1197-126del | |
| ENST00000371455.7:n.325-7089del (WTAPP1) | ||
| ENST00000525739.6:n.390-2210del (WTAPP1) | ||
| ENST00000544704.1:n.344+6871del (WTAPP1) | ||
| NM_001145938.1:c.999-126del (MMP1) | NP_001139410.1:n.999-126del | |
| NM_002421.3:c.1197-126del (MMP1) | NP_002412.1:n.1197-126del | |
| NR_038390.1:n.390-2210del (WTAPP1) | ||
| NM_002421.4:c.1197-126del (MMP1) MANE Select | NP_002412.1:n.1197-126del | |
| NM_001145938.2:c.999-126del (MMP1) | NP_001139410.1:n.999-126del |