Linked Data
ClinVar Variation Id:
1194760
ClinVar RCV Id:
RCV001557614
dbSNP Id:
rs139579949
gnomAD v2:
11-101374496-CTAA-C
gnomAD v3:
11-101503765-CTAA-C
gnomAD v4:
11-101503765-CTAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101503771_101503773del , CM000673.2:g.101503771_101503773del | GRCh38 |
| NC_000011.9:g.101374502_101374504del , CM000673.1:g.101374502_101374504del | GRCh37 |
| NC_000011.8:g.100879712_100879714del | NCBI36 |
| NG_011476.1:g.85161_85163del | |
| NG_011476.2:g.85161_85163del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.945+256_945+258del MANE Select | ENSP00000340913.3:n.945+256_945+258del | |
| ENST00000344327.7:c.945+256_945+258del | ENSP00000340913.3:n.945+256_945+258del | |
| ENST00000348423.8:c.945+256_945+258del | ENSP00000343672.4:n.945+256_945+258del | |
| ENST00000360497.4:c.945+256_945+258del | ENSP00000353687.4:n.945+256_945+258del | |
| ENST00000527240.1:n.67+256_67+258del | ||
| ENST00000532133.5:c.945+256_945+258del | ENSP00000435574.1:n.945+256_945+258del | |
| NM_004621.5:c.945+256_945+258del | NP_004612.2:n.945+256_945+258del | |
| XM_006718898.2:c.945+256_945+258del | XP_006718961.1:n.945+256_945+258del | |
| XM_011542968.1:c.780+256_780+258del | XP_011541270.1:n.780+256_780+258del | |
| XM_011542969.1:c.945+256_945+258del | XP_011541271.1:n.945+256_945+258del | |
| XM_011542968.3:c.780+256_780+258del | XP_011541270.1:n.780+256_780+258del | |
| XM_017018221.2:c.945+256_945+258del | XP_016873710.1:n.945+256_945+258del | |
| XR_001747948.2:n.1301+256_1301+258del | ||
| NM_004621.6:c.945+256_945+258del MANE Select | NP_004612.2:n.945+256_945+258del |