Linked Data
ClinVar Variation Id:
2165476
ClinVar RCV Id:
RCV003891412
dbSNP Id:
rs761789460
ExAC:
5:177031370 CCT / C
gnomAD v2:
5-177031370-CCT-C
gnomAD v3:
5-177604369-CCT-C
gnomAD v4:
5-177604369-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604370_177604371del , CM000667.2:g.177604370_177604371del | GRCh38 |
| NC_000005.9:g.177031371_177031372del , CM000667.1:g.177031371_177031372del | GRCh37 |
| NC_000005.8:g.176963977_176963978del | NCBI36 |
| NG_015977.1:g.9253_9254del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.242_243del MANE Select | ENSP00000029410.5:p.Pro81ArgfsTer? | |
| ENST00000029410.9:c.242_243del | ENSP00000029410.5:p.Pro81ArgfsTer? | |
| ENST00000502420.1:n.221_222del | ||
| ENST00000505433.5:c.242_243del | ENSP00000425591.1:p.Pro81ArgfsTer? | |
| ENST00000505468.1:c.-101_-100del | ENSP00000420886.1:n.-101_-100del | |
| ENST00000507061.1:c.59_60del | ENSP00000423868.1:p.Pro20ArgfsTer? | |
| ENST00000510761.1:c.-101_-100del | ENSP00000423438.1:n.-101_-100del | |
| NM_007255.2:c.242_243del | NP_009186.1:p.Pro81ArgfsTer? | |
| XM_005265805.2:c.-101_-100del | XP_005265862.1:n.-101_-100del | |
| XM_006714816.2:c.-258_-257del | XP_006714879.1:n.-258_-257del | |
| XM_011534421.1:c.-101_-100del | XP_011532723.1:n.-101_-100del | |
| XM_006714816.4:c.-258_-257del | XP_006714879.1:n.-258_-257del | |
| XM_017008999.2:c.-101_-100del | XP_016864488.1:n.-101_-100del | |
| NM_007255.3:c.242_243del MANE Select | NP_009186.1:p.Pro81ArgfsTer? |