Linked Data
gnomAD v4:
15-40931891-G-GCATCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931891_40931892insCATCCC , CM000677.2:g.40931891_40931892insCATCCC | GRCh38 |
| NC_000015.9:g.41224089_41224090insCATCCC , CM000677.1:g.41224089_41224090insCATCCC | GRCh37 |
| NC_000015.8:g.39011381_39011382insCATCCC | NCBI36 |
| NG_046974.1:g.7559_7560insCATCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.658+125_658+126insCATCCC MANE Select | ENSP00000249749.5:n.658+125_658+126insCATCCC | |
| ENST00000249749.6:c.658+125_658+126insCATCCC | ENSP00000249749.5:n.658+125_658+126insCATCCC | |
| ENST00000559440.1:n.887+125_887+126insCATCCC | ||
| NM_019074.3:c.658+125_658+126insCATCCC | NP_061947.1:n.658+125_658+126insCATCCC | |
| NM_019074.4:c.658+125_658+126insCATCCC MANE Select | NP_061947.1:n.658+125_658+126insCATCCC |