Linked Data
dbSNP Id:
rs199750451
gnomAD v2:
19-7184672-G-GAGAGAGAGAGAGA
gnomAD v3:
19-7184661-G-GAGAGAGAGAGAGA
gnomAD v4:
19-7184661-G-GAGAGAGAGAGAGA
MyVariant Identifiers:
chr19:g.7184672_7184673insAGAGAGAGAGAGA (hg19)
chr19:g.7184661_7184662insAGAGAGAGAGAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7184661_7184662insAGAGAGAGAGAGA , CM000681.2:g.7184661_7184662insAGAGAGAGAGAGA | GRCh38 |
| NC_000019.9:g.7184672_7184673insAGAGAGAGAGAGA , CM000681.1:g.7184672_7184673insAGAGAGAGAGAGA | GRCh37 |
| NC_000019.8:g.7135672_7135673insAGAGAGAGAGAGA | NCBI36 |
| NG_008852.2:g.114339_114340insTCTCTCTCTCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.653-25_653-24insTCTCTCTCTCTCT MANE Select | ENSP00000303830.4:n.653-25_653-24insTCTCTCTCTCTCT | |
| ENST00000302850.9:c.653-25_653-24insTCTCTCTCTCTCT | ENSP00000303830.4:n.653-25_653-24insTCTCTCTCTCTCT | |
| ENST00000341500.9:c.653-25_653-24insTCTCTCTCTCTCT | ENSP00000342838.4:n.653-25_653-24insTCTCTCTCTCTCT | |
| ENST00000598216.1:n.628-25_628-24insTCTCTCTCTCTCT | ||
| NM_000208.2:c.653-25_653-24insTCTCTCTCTCTCT | NP_000199.2:n.653-25_653-24insTCTCTCTCTCTCT | |
| NM_000208.3:c.653-25_653-24insTCTCTCTCTCTCT | NP_000199.2:n.653-25_653-24insTCTCTCTCTCTCT | |
| NM_001079817.1:c.653-25_653-24insTCTCTCTCTCTCT | NP_001073285.1:n.653-25_653-24insTCTCTCTCTCTCT | |
| NM_001079817.2:c.653-25_653-24insTCTCTCTCTCTCT | NP_001073285.1:n.653-25_653-24insTCTCTCTCTCTCT | |
| XM_011527988.1:c.731-25_731-24insTCTCTCTCTCTCT | XP_011526290.1:n.731-25_731-24insTCTCTCTCTCTCT | |
| XM_011527989.1:c.731-25_731-24insTCTCTCTCTCTCT | XP_011526291.1:n.731-25_731-24insTCTCTCTCTCTCT | |
| XM_011527988.2:c.653-25_653-24insTCTCTCTCTCTCT | XP_011526290.2:n.653-25_653-24insTCTCTCTCTCTCT | |
| XM_011527989.3:c.653-25_653-24insTCTCTCTCTCTCT | XP_011526291.2:n.653-25_653-24insTCTCTCTCTCTCT | |
| NM_000208.4:c.653-25_653-24insTCTCTCTCTCTCT MANE Select | NP_000199.2:n.653-25_653-24insTCTCTCTCTCTCT | |
| NM_001079817.3:c.653-25_653-24insTCTCTCTCTCTCT | NP_001073285.1:n.653-25_653-24insTCTCTCTCTCTCT |