Linked Data
dbSNP Id:
rs1323535030
gnomAD v3:
1-149927532-GACCGGACTTAAGTATC-G
gnomAD v4:
1-149927532-GACCGGACTTAAGTATC-G
MyVariant Identifiers:
chr1:g.149927533_149927548del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927535_149927550del , CM000663.2:g.149927535_149927550del | GRCh38 |
| NC_000001.10:g.149899427_149899442del , CM000663.1:g.149899427_149899442del | GRCh37 |
| NC_000001.9:g.148166051_148166066del | NCBI36 |
| NG_032777.1:g.5705_5720del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.34+178_34+193del MANE Select | ENSP00000271628.8:n.34+178_34+193del | |
| ENST00000271628.8:c.34+178_34+193del | ENSP00000271628.8:n.34+178_34+193del | |
| ENST00000457312.1:c.-212_-197del | ENSP00000391114.1:n.-212_-197del | |
| NM_005850.4:c.34+178_34+193del | NP_005841.1:n.34+178_34+193del | |
| NM_005850.5:c.34+178_34+193del MANE Select | NP_005841.1:n.34+178_34+193del |