Linked Data
dbSNP Id:
rs1169228985
gnomAD v2:
16-56938197-AC-A
gnomAD v3:
16-56904285-AC-A
gnomAD v4:
16-56904285-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56904286del , CM000678.2:g.56904286del | GRCh38 |
| NC_000016.9:g.56938198del , CM000678.1:g.56938198del | GRCh37 |
| NC_000016.8:g.55495699del | NCBI36 |
| NG_009386.1:g.44080del | |
| NG_009386.2:g.44080del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.2857-109del (SLC12A3) MANE Select | ENSP00000456149.2:n.2857-109del | |
| ENST00000262502.5:c.2854-109del (SLC12A3) | ENSP00000262502.5:n.2854-109del | |
| ENST00000438926.6:c.2884-109del (SLC12A3) | ENSP00000402152.2:n.2884-109del | |
| ENST00000563236.5:c.2857-109del (SLC12A3) | ENSP00000456149.1:n.2857-109del | |
| ENST00000566786.5:c.2881-109del (SLC12A3) | ENSP00000457552.1:n.2881-109del | |
| ENST00000569002.1:n.288-109del (SLC12A3) | ||
| NM_000339.2:c.2884-109del (SLC12A3) | NP_000330.2:n.2884-109del | |
| NM_001126107.1:c.2881-109del (SLC12A3) | NP_001119579.1:n.2881-109del | |
| NM_001126108.1:c.2857-109del (SLC12A3) | NP_001119580.1:n.2857-109del | |
| NR_106923.1:n.23del (MIR6863) | ||
| XM_005256119.1:c.2854-109del (SLC12A3) | XP_005256176.1:n.2854-109del | |
| XM_005256119.2:c.2854-109del (SLC12A3) | XP_005256176.1:n.2854-109del | |
| NM_000339.3:c.2884-109del (SLC12A3) | NP_000330.3:n.2884-109del | |
| NM_001126107.2:c.2881-109del (SLC12A3) | NP_001119579.2:n.2881-109del | |
| NM_001126108.2:c.2857-109del (SLC12A3) MANE Select | NP_001119580.2:n.2857-109del |