Linked Data
gnomAD v4:
2-240877260-C-CAAGAGGGACACTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877260_240877261insAAGAGGGACACTGG , CM000664.2:g.240877260_240877261insAAGAGGGACACTGG | GRCh38 |
| NC_000002.11:g.241816677_241816678insAAGAGGGACACTGG , CM000664.1:g.241816677_241816678insAAGAGGGACACTGG | GRCh37 |
| NC_000002.10:g.241465350_241465351insAAGAGGGACACTGG | NCBI36 |
| NG_008005.1:g.13516_13517insAAGAGGGACACTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-277_847-276insAAGAGGGACACTGG MANE Select | ENSP00000302620.3:n.847-277_847-276insAAGAGGGACACTGG | |
| ENST00000307503.3:c.847-277_847-276insAAGAGGGACACTGG | ENSP00000302620.3:n.847-277_847-276insAAGAGGGACACTGG | |
| ENST00000470255.1:n.348_349insAAGAGGGACACTGG | ||
| NM_000030.2:c.847-277_847-276insAAGAGGGACACTGG | NP_000021.1:n.847-277_847-276insAAGAGGGACACTGG | |
| NM_000030.3:c.847-277_847-276insAAGAGGGACACTGG MANE Select | NP_000021.1:n.847-277_847-276insAAGAGGGACACTGG |