Linked Data
ClinVar Variation Id:
2117483
ClinVar RCV Id:
RCV003027768
dbSNP Id:
rs2115131935
gnomAD v4:
6-136826379-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136826380dup , CM000668.2:g.136826380dup | GRCh38 |
| NC_000006.11:g.137147518dup , CM000668.1:g.137147518dup | GRCh37 |
| NC_000006.10:g.137189211dup | NCBI36 |
| NG_008462.1:g.8801dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.250dup MANE Select | ENSP00000315680.3:p.Ile84AsnfsTer4 | |
| ENST00000541292.6:c.250dup | ENSP00000441004.1:p.Ile84AsnfsTer4 | |
| ENST00000678002.1:c.125dup | ||
| ENST00000678557.1:c.136dup | ENSP00000502962.1:p.Ile46AsnfsTer4 | |
| ENST00000678593.1:c.255dup | ENSP00000503841.1:n.255dup | |
| ENST00000679286.1:c.130dup | ENSP00000503168.1:p.Ile44AsnfsTer4 | |
| ENST00000318471.4:c.250dup | ENSP00000315680.3:p.Ile84AsnfsTer4 | |
| ENST00000367756.8:c.250dup | ENSP00000356730.4:p.Ile84AsnfsTer4 | |
| ENST00000541292.5:c.250dup | ENSP00000441004.1:p.Ile84AsnfsTer4 | |
| NM_000288.3:c.250dup | NP_000279.1:p.Ile84AsnfsTer4 | |
| XM_005267019.3:c.136dup | XP_005267076.1:p.Ile46AsnfsTer4 | |
| XM_006715502.1:c.250dup | XP_006715565.1:p.Ile84AsnfsTer4 | |
| XM_011535900.1:c.250dup | XP_011534202.1:p.Ile84AsnfsTer4 | |
| XM_005267019.4:c.136dup | XP_005267076.1:p.Ile46AsnfsTer4 | |
| XM_006715502.2:c.250dup | XP_006715565.1:p.Ile84AsnfsTer4 | |
| XM_017010934.2:c.250dup | XP_016866423.1:p.Ile84AsnfsTer4 | |
| NM_000288.4:c.250dup MANE Select | NP_000279.1:p.Ile84AsnfsTer4 |