Linked Data
dbSNP Id:
rs990034471
gnomAD v2:
19-40791174-C-CCGGCAG
gnomAD v3:
19-40285267-C-CCGGCAG
gnomAD v4:
19-40285267-C-CCGGCAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285273_40285278dup , CM000681.2:g.40285273_40285278dup | GRCh38 |
| NC_000019.9:g.40791180_40791185dup , CM000681.1:g.40791180_40791185dup | GRCh37 |
| NC_000019.8:g.45483020_45483025dup | NCBI36 |
| NG_012038.2:g.5086_5091dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392038.7:c.-177_-172dup MANE Select | ENSP00000375892.2:n.-177_-172dup | |
| ENST00000391844.8:c.-223_-218dup | ENSP00000375719.4:n.-223_-218dup | |
| ENST00000392038.6:c.-177_-172dup | ENSP00000375892.2:n.-177_-172dup | |
| ENST00000424901.5:c.-177_-172dup | ENSP00000399532.2:n.-177_-172dup | |
| ENST00000578123.5:c.-85+175_-85+180dup | ENSP00000462022.1:n.-85+175_-85+180dup | |
| ENST00000579047.5:c.-233_-228dup | ENSP00000471369.1:n.-233_-228dup | |
| ENST00000584288.5:c.-316_-311dup | ENSP00000462469.1:n.-316_-311dup | |
| NM_001243027.2:c.-326_-321dup | NP_001229956.1:n.-326_-321dup | |
| NM_001243028.2:c.-233_-228dup | NP_001229957.1:n.-233_-228dup | |
| NM_001626.5:c.-177_-172dup | NP_001617.1:n.-177_-172dup | |
| XM_011526620.1:c.-85+175_-85+180dup | XP_011524922.1:n.-85+175_-85+180dup | |
| XM_011526622.1:c.-177_-172dup | XP_011524924.1:n.-177_-172dup | |
| XM_011526622.2:c.-177_-172dup | XP_011524924.1:n.-177_-172dup | |
| XM_024451417.1:c.-177_-172dup | XP_024307185.1:n.-177_-172dup | |
| NM_001626.6:c.-177_-172dup MANE Select | NP_001617.1:n.-177_-172dup | |
| NM_001243027.3:c.-326_-321dup | NP_001229956.1:n.-326_-321dup | |
| NM_001243028.3:c.-233_-228dup | NP_001229957.1:n.-233_-228dup |