Linked Data
dbSNP Id:
rs1277452454
gnomAD v3:
5-33984441-C-CAGAA
gnomAD v4:
5-33984441-C-CAGAA
MyVariant Identifiers:
chr5:g.33984546_33984547insAGAA (hg19)
chr5:g.33984441_33984442insAGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984442_33984445dup , CM000667.2:g.33984442_33984445dup | GRCh38 |
| NC_000005.9:g.33984547_33984550dup , CM000667.1:g.33984547_33984550dup | GRCh37 |
| NC_000005.8:g.34020304_34020307dup | NCBI36 |
| NG_011691.2:g.5231_5234dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.139_142dup MANE Select | ENSP00000296589.4:p.Cys48PhefsTer? | |
| ENST00000296589.8:c.139_142dup | ENSP00000296589.4:p.Cys48PhefsTer? | |
| ENST00000382102.7:c.139_142dup | ENSP00000371534.3:p.Cys48PhefsTer? | |
| ENST00000505056.1:n.118_121dup | ||
| ENST00000509381.1:c.139_142dup | ENSP00000421100.1:p.Cys48PhefsTer? | |
| NM_001012509.3:c.139_142dup | NP_001012527.1:p.Cys48PhefsTer? | |
| NM_001297417.2:c.139_142dup | NP_001284346.2:p.Cys48PhefsTer? | |
| NM_016180.4:c.139_142dup | NP_057264.3:p.Cys48PhefsTer? | |
| XM_011514052.1:c.139_142dup | XP_011512354.1:p.Cys48PhefsTer? | |
| XR_925620.1:n.700_703dup | ||
| NM_016180.5:c.139_142dup MANE Select | NP_057264.4:p.Cys48PhefsTer? | |
| NM_001012509.4:c.139_142dup | NP_001012527.2:p.Cys48PhefsTer? | |
| NM_001297417.3:c.139_142dup | NP_001284346.2:p.Cys48PhefsTer? | |
| NM_001297417.4:c.139_142dup | NP_001284346.2:p.Cys48PhefsTer? |