Linked Data
ClinVar Variation Id:
315543
ClinVar RCV Id:
RCV000344373
dbSNP Id:
rs886051035
gnomAD v2:
15-34522273-CAA-C
gnomAD v3:
15-34230072-CAA-C
gnomAD v4:
15-34230072-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34230073_34230074del , CM000677.2:g.34230073_34230074del | GRCh38 |
| NC_000015.9:g.34522274_34522275del , CM000677.1:g.34522274_34522275del | GRCh37 |
| NC_000015.8:g.32309566_32309567del | NCBI36 |
| NG_007951.1:g.112991_112992del , LRG_270:g.112991_112992del | |
| NG_054746.1:g.10077_10078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267750.9:c.*285_*286del (EMC4) MANE Select | ENSP00000267750.4:n.*285_*286del | |
| ENST00000354181.8:c.*3807_*3808del (SLC12A6) MANE Select | ENSP00000346112.3:n.*3807_*3808del | |
| ENST00000676379.1:c.*2426_*2427del (SLC12A6) | ENSP00000502539.1:n.*2426_*2427del | |
| ENST00000249209.8:c.*226_*227del (EMC4) | ENSP00000249209.4:n.*226_*227del | |
| ENST00000267750.8:c.*285_*286del (EMC4) | ENSP00000267750.4:n.*285_*286del | |
| ENST00000290209.9:c.*3807_*3808del (SLC12A6) | ENSP00000290209.5:n.*3807_*3808del | |
| ENST00000558205.5:c.*590_*591del (EMC4) | ENSP00000454042.1:n.*590_*591del | |
| ENST00000560947.1:c.626_627del (EMC4) | ||
| ENST00000561246.1:n.1943_1944del (EMC4) | ||
| NM_001042494.1:c.*3807_*3808del (SLC12A6) | NP_001035959.1:n.*3807_*3808del | |
| NM_001042495.1:c.*3807_*3808del (SLC12A6) | NP_001035960.1:n.*3807_*3808del | |
| NM_001042496.1:c.*3807_*3808del (SLC12A6) | NP_001035961.1:n.*3807_*3808del | |
| NM_001042497.1:c.*3807_*3808del (SLC12A6) | NP_001035962.1:n.*3807_*3808del | |
| NM_001286420.1:c.*226_*227del (EMC4) | NP_001273349.1:n.*226_*227del | |
| NM_005135.2:c.*3807_*3808del , LRG_270t1:c.*3807_*3808del (SLC12A6) | NP_005126.1:n.*3807_*3808del | |
| NM_016454.3:c.*285_*286del (EMC4) | NP_057538.1:n.*285_*286del | |
| NM_133647.1:c.*3807_*3808del , LRG_270t2:c.*3807_*3808del (SLC12A6) | NP_598408.1:n.*3807_*3808del | |
| XM_011522267.1:c.*3807_*3808del (SLC12A6) | XP_011520569.1:n.*3807_*3808del | |
| XM_011522268.1:c.*3807_*3808del (SLC12A6) | XP_011520570.1:n.*3807_*3808del | |
| XR_429476.2:n.6482_6483del (SLC12A6) | ||
| NM_001351373.1:c.*285_*286del (EMC4) | NP_001338302.1:n.*285_*286del | |
| NM_001365088.1:c.*3807_*3808del (SLC12A6) MANE Select | NP_001352017.1:n.*3807_*3808del | |
| NR_147140.1:n.802_803del (EMC4) | ||
| XM_006720793.4:c.*3807_*3808del (SLC12A6) | XP_006720856.1:n.*3807_*3808del | |
| NM_016454.4:c.*285_*286del (EMC4) MANE Select | NP_057538.1:n.*285_*286del | |
| NM_001042494.2:c.*3807_*3808del (SLC12A6) | NP_001035959.1:n.*3807_*3808del | |
| NM_001042495.2:c.*3807_*3808del (SLC12A6) | NP_001035960.1:n.*3807_*3808del | |
| NM_001042496.2:c.*3807_*3808del (SLC12A6) | NP_001035961.1:n.*3807_*3808del | |
| NM_001042497.2:c.*3807_*3808del (SLC12A6) | NP_001035962.1:n.*3807_*3808del | |
| NM_001286420.2:c.*226_*227del (EMC4) | NP_001273349.1:n.*226_*227del | |
| NM_001351373.2:c.*285_*286del (EMC4) | NP_001338302.1:n.*285_*286del | |
| NR_147140.2:n.783_784del (EMC4) | ||
| NM_133647.2:c.*3807_*3808del (SLC12A6) | NP_598408.1:n.*3807_*3808del |