Linked Data
dbSNP Id:
rs767483380
ExAC:
19:41869331 G / GAAT
gnomAD v2:
19-41869331-G-GAAT
gnomAD v4:
19-41363426-G-GAAT
MyVariant Identifiers:
chr19:g.41869331_41869332insAAT (hg19)
chr19:g.41363426_41363427insAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41363428_41363430dup , CM000681.2:g.41363428_41363430dup | GRCh38 |
| NC_000019.9:g.41869333_41869335dup , CM000681.1:g.41869333_41869335dup | GRCh37 |
| NC_000019.8:g.46561173_46561175dup | NCBI36 |
| NG_013091.1:g.5745_5747dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243578.8:c.88+3_88+5dup (B9D2) MANE Select | ENSP00000243578.2:n.88+3_88+5dup | |
| ENST00000675972.1:c.88+3_88+5dup (B9D2) | ENSP00000501911.1:n.88+3_88+5dup | |
| ENST00000243578.7:c.88+3_88+5dup (B9D2) | ENSP00000243578.2:n.88+3_88+5dup | |
| ENST00000539627.5:c.-30+12226_-30+12228dup (TMEM91) | ENSP00000441900.1:n.-30+12226_-30+12228dup | |
| ENST00000594416.1:c.88+3_88+5dup (B9D2) | ENSP00000469666.1:n.88+3_88+5dup | |
| ENST00000601597.1:n.227+3_227+5dup (B9D2) | ||
| ENST00000604123.5:c.142+9113_142+9115dup (TMEM91) | ENSP00000474871.1:n.142+9113_142+9115dup | |
| ENST00000604424.1:n.350+12226_350+12228dup | ||
| NM_030578.3:c.88+3_88+5dup (B9D2) | NP_085055.2:n.88+3_88+5dup | |
| XM_006723405.1:c.88+3_88+5dup (B9D2) | XP_006723468.1:n.88+3_88+5dup | |
| XM_011527349.1:c.88+3_88+5dup (B9D2) | XP_011525651.1:n.88+3_88+5dup | |
| XM_011527350.1:c.-72+529_-72+531dup (B9D2) | XP_011525652.1:n.-72+529_-72+531dup | |
| XM_011527349.2:c.88+3_88+5dup (B9D2) | XP_011525651.1:n.88+3_88+5dup | |
| XM_011527350.2:c.-72+529_-72+531dup (B9D2) | XP_011525652.1:n.-72+529_-72+531dup | |
| NM_030578.4:c.88+3_88+5dup (B9D2) MANE Select | NP_085055.2:n.88+3_88+5dup |