Linked Data
ClinVar Variation Id:
328493
dbSNP Id:
rs3212801
gnomAD v2:
19-17937324-CAGAG-C
gnomAD v3:
19-17826515-CAGAG-C
gnomAD v4:
19-17826515-CAGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17826518_17826521del , CM000681.2:g.17826518_17826521del | GRCh38 |
| NC_000019.9:g.17937327_17937330del , CM000681.1:g.17937327_17937330del | GRCh37 |
| NC_000019.8:g.17798327_17798330del | NCBI36 |
| NG_007273.1:g.26473_26476del , LRG_77:g.26473_26476del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*2156_*2159del | ENSP00000513006.1:n.*2156_*2159del | |
| ENST00000696967.1:n.2776_2779del | ||
| ENST00000696968.1:n.832_835del | ||
| ENST00000696969.1:n.2556_2559del | ||
| ENST00000458235.7:c.*224_*227del MANE Select | ENSP00000391676.1:n.*224_*227del | |
| ENST00000458235.5:c.*224_*227del | ENSP00000391676.1:n.*224_*227del | |
| ENST00000527031.5:n.2279-1209_2279-1206del | ||
| ENST00000527670.5:c.*224_*227del | ENSP00000432511.1:n.*224_*227del | |
| NM_000215.3:c.*224_*227del , LRG_77t1:c.*224_*227del | NP_000206.2:n.*224_*227del | |
| XM_005259896.2:c.*224_*227del | XP_005259953.1:n.*224_*227del | |
| XM_006722745.2:c.*224_*227del | XP_006722808.1:n.*224_*227del | |
| XM_005259896.3:c.*224_*227del | XP_005259953.1:n.*224_*227del | |
| NM_000215.4:c.*224_*227del MANE Select | NP_000206.2:n.*224_*227del |