Linked Data
dbSNP Id:
rs1442195038
gnomAD v2:
19-7755396-TC-T
gnomAD v3:
19-7690510-TC-T
gnomAD v4:
19-7690510-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7690512del , CM000681.2:g.7690512del | GRCh38 |
| NC_000019.9:g.7755398del , CM000681.1:g.7755398del | GRCh37 |
| NC_000019.8:g.7661398del | NCBI36 |
| NG_029554.1:g.16636del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597921.6:c.516del MANE Select | ENSP00000471974.1:p.Lys173SerfsTer? | |
| ENST00000346664.9:c.516del | ENSP00000264072.6:p.Lys173SerfsTer? | |
| ENST00000360067.8:c.513del | ENSP00000353178.4:p.Lys172SerfsTer? | |
| ENST00000593418.1:c.453del | ENSP00000472067.1:p.Lys152SerfsTer? | |
| ENST00000597312.5:n.1041del | ||
| ENST00000597921.5:c.516del | ENSP00000471974.1:p.Lys173SerfsTer? | |
| ENST00000597934.1:n.878del | ||
| ENST00000598803.5:n.1011del | ||
| NM_001207019.2:c.513del | NP_001193948.2:p.Lys172SerfsTer? | |
| NM_001220500.1:c.516del | NP_001207429.1:p.Lys173SerfsTer? | |
| NM_002002.4:c.516del | NP_001993.2:p.Lys173SerfsTer? | |
| XM_005272462.3:c.516del | XP_005272519.1:p.Lys173SerfsTer? | |
| XM_005272462.4:c.516del | XP_005272519.1:p.Lys173SerfsTer? | |
| NM_001220500.2:c.516del MANE Select | NP_001207429.1:p.Lys173SerfsTer? | |
| NM_001207019.3:c.513del | NP_001193948.2:p.Lys172SerfsTer? | |
| NM_002002.5:c.516del | NP_001993.2:p.Lys173SerfsTer? |