Linked Data
ClinVar Variation Id:
546817
ClinVar RCV Id:
RCV000658805
dbSNP Id:
rs1555744217
MyVariant Identifiers:
chr18:g.31324065_31324066insAAAC (hg19)
chr18:g.33744101_33744102insAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.33744103_33744106dup , CM000680.2:g.33744103_33744106dup | GRCh38 |
| NC_000018.9:g.31324067_31324070dup , CM000680.1:g.31324067_31324070dup | GRCh37 |
| NC_000018.8:g.29578065_29578068dup | NCBI36 |
| NG_055244.1:g.170527_170530dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696964.1:c.4258_4261dup | ENSP00000513003.1:p.Met1421LysfsTer9 | |
| ENST00000269197.12:c.4255_4258dup MANE Select | ENSP00000269197.4:p.Met1420LysfsTer9 | |
| ENST00000681521.1:c.4135_4138dup | ENSP00000506037.1:p.Met1380LysfsTer9 | |
| ENST00000269197.9:c.4255_4258dup | ENSP00000269197.4:p.Met1420LysfsTer9 | |
| NM_030632.1:c.4255_4258dup | NP_085135.1:p.Met1420LysfsTer9 | |
| XM_005258356.1:c.4258_4261dup | XP_005258413.1:p.Met1421LysfsTer9 | |
| XM_011526205.1:c.4231_4234dup | XP_011524507.1:p.Met1412LysfsTer9 | |
| XM_011526206.1:c.4177_4180dup | XP_011524508.1:p.Met1394LysfsTer9 | |
| XM_011526207.1:c.4177_4180dup | XP_011524509.1:p.Met1394LysfsTer9 | |
| XM_011526208.1:c.4138_4141dup | XP_011524510.1:p.Met1381LysfsTer9 | |
| XM_011526209.1:c.4087_4090dup | XP_011524511.1:p.Met1364LysfsTer9 | |
| XM_011526210.1:c.4087_4090dup | XP_011524512.1:p.Met1364LysfsTer9 | |
| XM_011526211.1:c.4087_4090dup | XP_011524513.1:p.Met1364LysfsTer9 | |
| XM_011526212.1:c.4087_4090dup | XP_011524514.1:p.Met1364LysfsTer9 | |
| XM_011526213.1:c.4087_4090dup | XP_011524515.1:p.Met1364LysfsTer9 | |
| XM_011526214.1:c.4087_4090dup | XP_011524516.1:p.Met1364LysfsTer9 | |
| XM_011526215.1:c.1219_1222dup | XP_011524517.1:p.Met408LysfsTer9 | |
| NM_030632.2:c.4255_4258dup | NP_085135.1:p.Met1420LysfsTer9 | |
| XM_011526205.2:c.4231_4234dup | XP_011524507.1:p.Met1412LysfsTer9 | |
| XM_011526206.2:c.4177_4180dup | XP_011524508.1:p.Met1394LysfsTer9 | |
| XM_011526213.2:c.4087_4090dup | XP_011524515.1:p.Met1364LysfsTer9 | |
| XM_017026012.1:c.4177_4180dup | XP_016881501.1:p.Met1394LysfsTer9 | |
| XM_017026013.1:c.4087_4090dup | XP_016881502.1:p.Met1364LysfsTer9 | |
| XM_017026014.2:c.4087_4090dup | XP_016881503.1:p.Met1364LysfsTer9 | |
| XM_024451269.1:c.4087_4090dup | XP_024307037.1:p.Met1364LysfsTer9 | |
| NM_030632.3:c.4255_4258dup MANE Select | NP_085135.1:p.Met1420LysfsTer9 |