Linked Data
dbSNP Id:
rs1553782913
gnomAD v3:
3-143707385-C-CAA
gnomAD v4:
3-143707385-C-CAA
MyVariant Identifiers:
chr3:g.143426227_143426228insAA (hg19)
chr3:g.143707385_143707386insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143707386_143707387insAA , CM000665.2:g.143707386_143707387insAA | GRCh38 |
| NC_000003.11:g.143426228_143426229insAA , CM000665.1:g.143426228_143426229insAA | GRCh37 |
| NC_000003.10:g.144908918_144908919insAA | NCBI36 |
| NG_017077.1:g.146146_146147insTT | |
| NG_017077.2:g.146146_146147insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.534-14079_534-14078insTT MANE Select | ENSP00000320246.6:n.534-14079_534-14078insTT | |
| ENST00000316549.10:c.534-14079_534-14078insTT | ENSP00000320246.6:n.534-14079_534-14078insTT | |
| ENST00000474727.2:c.*145-14079_*145-14078insTT | ENSP00000419090.2:n.*145-14079_*145-14078insTT | |
| NM_173653.3:c.534-14079_534-14078insTT | NP_775924.1:n.534-14079_534-14078insTT | |
| XM_011512704.1:c.534-14079_534-14078insTT | XP_011511006.1:n.534-14079_534-14078insTT | |
| XM_011512704.3:c.534-14079_534-14078insTT | XP_011511006.1:n.534-14079_534-14078insTT | |
| XM_017006202.2:c.534-14079_534-14078insTT | XP_016861691.1:n.534-14079_534-14078insTT | |
| XM_017006203.1:c.183-14079_183-14078insTT | XP_016861692.1:n.183-14079_183-14078insTT | |
| NM_173653.4:c.534-14079_534-14078insTT MANE Select | NP_775924.1:n.534-14079_534-14078insTT |