Linked Data
dbSNP Id:
rs1367943447
gnomAD v2:
3-46005474-CCACGTTTTCAGCATTATTTAAATACATG-C
gnomAD v3:
3-45963982-CCACGTTTTCAGCATTATTTAAATACATG-C
gnomAD v4:
3-45963982-CCACGTTTTCAGCATTATTTAAATACATG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45963984_45964011del , CM000665.2:g.45963984_45964011del | GRCh38 |
| NC_000003.11:g.46005476_46005503del , CM000665.1:g.46005476_46005503del | GRCh37 |
| NC_000003.10:g.45980480_45980507del | NCBI36 |
| NG_031955.1:g.36815_36842del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296137.7:c.3269+326_3269+353del MANE Select | ENSP00000296137.2:n.3269+326_3269+353del | |
| ENST00000296137.6:c.3269+326_3269+353del | ENSP00000296137.2:n.3269+326_3269+353del | |
| ENST00000535325.5:c.3269+326_3269+353del | ENSP00000441178.1:n.3269+326_3269+353del | |
| NM_024513.3:c.3269+326_3269+353del | NP_078789.2:n.3269+326_3269+353del | |
| XM_006713333.2:c.3269+326_3269+353del | XP_006713396.1:n.3269+326_3269+353del | |
| XM_006713334.2:c.3269+326_3269+353del | XP_006713397.1:n.3269+326_3269+353del | |
| XM_011534111.1:c.3269+326_3269+353del | XP_011532413.1:n.3269+326_3269+353del | |
| XM_011534112.1:c.3269+326_3269+353del | XP_011532414.1:n.3269+326_3269+353del | |
| XR_245157.1:n.3484+326_3484+353del | ||
| XM_006713333.3:c.3269+326_3269+353del | XP_006713396.1:n.3269+326_3269+353del | |
| XM_006713334.3:c.3269+326_3269+353del | XP_006713397.1:n.3269+326_3269+353del | |
| XM_011534111.3:c.3269+326_3269+353del | XP_011532413.1:n.3269+326_3269+353del | |
| XR_001740265.1:n.3365+1023_3365+1050del | ||
| NM_024513.4:c.3269+326_3269+353del MANE Select | NP_078789.2:n.3269+326_3269+353del | |
| NM_001386421.1:c.3269+326_3269+353del | NP_001373350.1:n.3269+326_3269+353del | |
| NM_001386422.1:c.3269+326_3269+353del | NP_001373351.1:n.3269+326_3269+353del | |
| NM_001386423.1:c.3269+326_3269+353del | NP_001373352.1:n.3269+326_3269+353del | |
| NM_001386424.1:c.3269+326_3269+353del | NP_001373353.1:n.3269+326_3269+353del | |
| NM_001386425.1:c.3269+326_3269+353del | NP_001373354.1:n.3269+326_3269+353del | |
| NM_001386426.1:c.3149+326_3149+353del | NP_001373355.1:n.3149+326_3149+353del | |
| NM_001386427.1:c.3125+326_3125+353del | NP_001373356.1:n.3125+326_3125+353del | |
| NM_001386428.1:c.3269+326_3269+353del | NP_001373357.1:n.3269+326_3269+353del | |
| NM_001386429.1:c.3269+326_3269+353del | NP_001373358.1:n.3269+326_3269+353del | |
| NM_001386430.1:c.2669+326_2669+353del | NP_001373359.1:n.2669+326_2669+353del | |
| NR_170107.1:n.3484+326_3484+353del |