Linked Data
dbSNP Id:
rs762027483
gnomAD v2:
19-11217989-CTA-C
gnomAD v3:
19-11107313-CTA-C
gnomAD v4:
19-11107313-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107315_11107316del , CM000681.2:g.11107315_11107316del | GRCh38 |
| NC_000019.9:g.11217991_11217992del , CM000681.1:g.11217991_11217992del | GRCh37 |
| NC_000019.8:g.11078991_11078992del | NCBI36 |
| NG_009060.1:g.22935_22936del , LRG_274:g.22935_22936del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1076-77_1076-76del | ENSP00000252444.6:n.1076-77_1076-76del | |
| ENST00000559340.2:c.818-77_818-76del | ENSP00000453696.2:n.818-77_818-76del | |
| ENST00000560467.2:c.818-77_818-76del | ENSP00000453513.2:n.818-77_818-76del | |
| ENST00000558518.6:c.818-77_818-76del MANE Select | ENSP00000454071.1:n.818-77_818-76del | |
| ENST00000252444.9:c.1072-77_1072-76del | ||
| ENST00000455727.6:c.314-77_314-76del | ENSP00000397829.2:n.314-77_314-76del | |
| ENST00000535915.5:c.695-77_695-76del | ENSP00000440520.1:n.695-77_695-76del | |
| ENST00000545707.5:c.437-77_437-76del | ENSP00000437639.1:n.437-77_437-76del | |
| ENST00000557933.5:c.818-77_818-76del | ENSP00000453557.1:n.818-77_818-76del | |
| ENST00000558013.5:c.818-77_818-76del | ENSP00000453346.1:n.818-77_818-76del | |
| ENST00000558518.5:c.818-77_818-76del | ENSP00000454071.1:n.818-77_818-76del | |
| ENST00000558528.1:n.333-77_333-76del | ||
| ENST00000560467.1:c.418-77_418-76del | ||
| NM_000527.4:c.818-77_818-76del , LRG_274t1:c.818-77_818-76del | NP_000518.1:n.818-77_818-76del | |
| NM_001195798.1:c.818-77_818-76del | NP_001182727.1:n.818-77_818-76del | |
| NM_001195799.1:c.695-77_695-76del | NP_001182728.1:n.695-77_695-76del | |
| NM_001195800.1:c.314-77_314-76del | NP_001182729.1:n.314-77_314-76del | |
| NM_001195803.1:c.437-77_437-76del | NP_001182732.1:n.437-77_437-76del | |
| XM_011528010.1:c.818-77_818-76del | XP_011526312.1:n.818-77_818-76del | |
| XM_011528011.1:c.437-77_437-76del | XP_011526313.1:n.437-77_437-76del | |
| XR_244074.2:n.968-77_968-76del | ||
| XM_011528010.2:c.818-77_818-76del | XP_011526312.1:n.818-77_818-76del | |
| XR_001753685.2:n.935-77_935-76del | ||
| XR_001753686.2:n.935-77_935-76del | ||
| NM_000527.5:c.818-77_818-76del MANE Select | NP_000518.1:n.818-77_818-76del | |
| NM_001195798.2:c.818-77_818-76del | NP_001182727.1:n.818-77_818-76del | |
| NM_001195799.2:c.695-77_695-76del | NP_001182728.1:n.695-77_695-76del | |
| NM_001195800.2:c.314-77_314-76del | NP_001182729.1:n.314-77_314-76del | |
| NM_001195803.2:c.437-77_437-76del | NP_001182732.1:n.437-77_437-76del |