Linked Data
dbSNP Id:
rs748236897
gnomAD v2:
16-3827668-C-CAAAACAAAAACA
gnomAD v4:
16-3777667-C-CAAAACAAAAACA
MyVariant Identifiers:
chr16:g.3827674_3827675insAAAACAAAAACA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3777677_3777688dup , CM000678.2:g.3777677_3777688dup | GRCh38 |
| NC_000016.9:g.3827678_3827689dup , CM000678.1:g.3827678_3827689dup | GRCh37 |
| NC_000016.8:g.3767679_3767690dup | NCBI36 |
| NG_009873.1:g.107442_107453dup | |
| NG_009873.2:g.108035_108046dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2114-22_2114-11dup MANE Select | ENSP00000262367.5:n.2114-22_2114-11dup | |
| ENST00000262367.9:c.2114-22_2114-11dup | ENSP00000262367.5:n.2114-22_2114-11dup | |
| ENST00000382070.7:c.2000-22_2000-11dup | ENSP00000371502.3:n.2000-22_2000-11dup | |
| ENST00000570939.2:c.719-22_719-11dup | ENSP00000461002.2:n.719-22_719-11dup | |
| ENST00000571826.5:c.163-22_163-11dup | ||
| ENST00000572134.1:c.426+332_426+343dup | ||
| NM_001079846.1:c.2000-22_2000-11dup | NP_001073315.1:n.2000-22_2000-11dup | |
| NM_004380.2:c.2114-22_2114-11dup | NP_004371.2:n.2114-22_2114-11dup | |
| XM_005255124.3:c.2113+332_2113+343dup | XP_005255181.1:n.2113+332_2113+343dup | |
| XM_005255125.3:c.2114-22_2114-11dup | XP_005255182.1:n.2114-22_2114-11dup | |
| XM_006720848.2:c.2114-22_2114-11dup | XP_006720911.1:n.2114-22_2114-11dup | |
| XM_011522380.1:c.2060-22_2060-11dup | XP_011520682.1:n.2060-22_2060-11dup | |
| XM_011522381.1:c.1361-22_1361-11dup | XP_011520683.1:n.1361-22_1361-11dup | |
| XM_011522382.1:c.2114-22_2114-11dup | XP_011520684.1:n.2114-22_2114-11dup | |
| XM_005255124.4:c.2113+332_2113+343dup | XP_005255181.1:n.2113+332_2113+343dup | |
| XM_005255125.4:c.2114-22_2114-11dup | XP_005255182.1:n.2114-22_2114-11dup | |
| XM_006720848.3:c.2114-22_2114-11dup | XP_006720911.1:n.2114-22_2114-11dup | |
| XM_011522381.2:c.1361-22_1361-11dup | XP_011520683.1:n.1361-22_1361-11dup | |
| XM_011522382.3:c.2114-22_2114-11dup | XP_011520684.1:n.2114-22_2114-11dup | |
| XM_017022944.1:c.2114-22_2114-11dup | XP_016878433.1:n.2114-22_2114-11dup | |
| NM_004380.3:c.2114-22_2114-11dup MANE Select | NP_004371.2:n.2114-22_2114-11dup |