Linked Data
dbSNP Id:
rs764208087
gnomAD v2:
3-49160539-T-TGCCCCACCC
gnomAD v4:
3-49123106-T-TGCCCCACCC
MyVariant Identifiers:
chr3:g.49160539_49160540insGCCCCACCC (hg19)
chr3:g.49123106_49123107insGCCCCACCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123107_49123115dup , CM000665.2:g.49123107_49123115dup | GRCh38 |
| NC_000003.11:g.49160540_49160548dup , CM000665.1:g.49160540_49160548dup | GRCh37 |
| NC_000003.10:g.49135544_49135552dup | NCBI36 |
| NG_008094.1:g.15052_15060dup | |
| NG_054716.1:g.2824_2832dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4224+17_4224+25dup MANE Select | ENSP00000307156.4:n.4224+17_4224+25dup | |
| ENST00000305544.8:c.4224+17_4224+25dup | ENSP00000307156.4:n.4224+17_4224+25dup | |
| ENST00000418109.5:c.4224+17_4224+25dup | ENSP00000388325.1:n.4224+17_4224+25dup | |
| ENST00000469665.1:n.471_479dup | ||
| NM_002292.3:c.4224+17_4224+25dup | NP_002283.3:n.4224+17_4224+25dup | |
| XM_005265127.3:c.4224+17_4224+25dup | XP_005265184.1:n.4224+17_4224+25dup | |
| XM_005265127.4:c.4224+17_4224+25dup | XP_005265184.1:n.4224+17_4224+25dup | |
| NM_002292.4:c.4224+17_4224+25dup MANE Select | NP_002283.3:n.4224+17_4224+25dup |