Linked Data
dbSNP Id:
rs1417995570
gnomAD v3:
1-204190683-GGGGACA-G
gnomAD v4:
1-204190683-GGGGACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190685_204190690del , CM000663.2:g.204190685_204190690del | GRCh38 |
| NC_000001.10:g.204159813_204159818del , CM000663.1:g.204159813_204159818del | GRCh37 |
| NC_000001.9:g.202426436_202426441del | NCBI36 |
| NG_032151.1:g.10803_10808del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.212_217del MANE Select | ENSP00000356162.4:p.Leu71_Ser72del | |
| ENST00000367194.4:c.212_217del | ENSP00000356162.4:p.Leu71_Ser72del | |
| ENST00000625357.1:c.212_217del | ENSP00000485957.1:p.Leu71_Ser72del | |
| NM_002256.3:c.212_217del | NP_002247.3:p.Leu71_Ser72del | |
| XM_011509525.1:c.212_217del | XP_011507827.1:p.Leu71_Ser72del | |
| NM_002256.4:c.212_217del MANE Select | NP_002247.3:p.Leu71_Ser72del |