Linked Data
ClinVar Variation Id:
795007
ClinVar RCV Id:
RCV000978305
dbSNP Id:
rs1582613268
gnomAD v4:
6-79489073-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79489077_79489078del , CM000668.2:g.79489077_79489078del | GRCh38 |
| NC_000006.11:g.80198794_80198795del , CM000668.1:g.80198794_80198795del | GRCh37 |
| NC_000006.10:g.80255513_80255514del | NCBI36 |
| NG_016011.1:g.53356_53357del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.1231+9_1231+10del MANE Select | ENSP00000358861.4:n.1231+9_1231+10del | |
| ENST00000369846.8:c.1231+9_1231+10del | ENSP00000358861.4:n.1231+9_1231+10del | |
| ENST00000392959.5:c.1231+9_1231+10del | ENSP00000376686.1:n.1231+9_1231+10del | |
| ENST00000467898.3:c.1240_1241del | ENSP00000474463.1:p.Lys414GlufsTer4 | |
| NM_001122769.2:c.1231+9_1231+10del | NP_001116241.1:n.1231+9_1231+10del | |
| NM_181714.3:c.1231+9_1231+10del | NP_859065.2:n.1231+9_1231+10del | |
| XM_005248665.3:c.1231+9_1231+10del | XP_005248722.1:n.1231+9_1231+10del | |
| XM_011535504.1:c.1231+9_1231+10del | XP_011533806.1:n.1231+9_1231+10del | |
| XM_005248665.4:c.1231+9_1231+10del | XP_005248722.1:n.1231+9_1231+10del | |
| XR_001744213.1:n.2813_2814del | ||
| XR_001744214.1:n.2775_2776del | ||
| NM_001122769.3:c.1231+9_1231+10del MANE Select | NP_001116241.1:n.1231+9_1231+10del | |
| NM_181714.4:c.1231+9_1231+10del | NP_859065.2:n.1231+9_1231+10del |