Linked Data
dbSNP Id:
rs1555735673
gnomAD v2:
19-8645852-G-GGGGC
gnomAD v4:
19-8580968-G-GGGGC
MyVariant Identifiers:
chr19:g.8645852_8645853insGGGC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8580969_8580972dup , CM000681.2:g.8580969_8580972dup | GRCh38 |
| NC_000019.9:g.8645853_8645856dup , CM000681.1:g.8645853_8645856dup | GRCh37 |
| NC_000019.8:g.8551853_8551856dup | NCBI36 |
| NG_011840.2:g.34731_34734dup | |
| NG_052844.1:g.1476_1479dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3233_3236dup MANE Select | ENSP00000471851.1:p.Leu1080ProfsTer? | |
| ENST00000270328.8:c.3233_3236dup | ENSP00000270328.4:p.Leu1080ProfsTer? | |
| ENST00000593913.5:c.*2110_*2113dup | ENSP00000469901.1:n.*2110_*2113dup | |
| ENST00000595838.5:c.1694_1697dup | ENSP00000470501.1:p.Leu567ProfsTer? | |
| ENST00000597188.5:c.3233_3236dup | ENSP00000471851.1:p.Leu1080ProfsTer? | |
| NM_001282352.1:c.1694_1697dup | NP_001269281.1:p.Leu567ProfsTer? | |
| NM_030957.3:c.3233_3236dup | NP_112219.3:p.Leu1080ProfsTer? | |
| XM_006722917.2:c.2276_2279dup | XP_006722980.1:p.Leu761ProfsTer? | |
| XM_011528331.1:c.3380_3383dup | XP_011526633.1:p.Leu1129ProfsTer? | |
| XM_011528332.1:c.3380_3383dup | XP_011526634.1:p.Leu1129ProfsTer? | |
| XM_011528333.1:c.3380_3383dup | XP_011526635.1:p.Leu1129ProfsTer? | |
| XM_011528334.1:c.3056_3059dup | XP_011526636.1:p.Leu1021ProfsTer? | |
| XM_011528335.1:c.1949_1952dup | XP_011526637.1:p.Leu652ProfsTer? | |
| XM_011528336.1:c.1943_1946dup | XP_011526638.1:p.Leu650ProfsTer? | |
| XM_006722917.3:c.2276_2279dup | XP_006722980.1:p.Leu761ProfsTer? | |
| XM_017027338.2:c.3233_3236dup | XP_016882827.1:p.Leu1080ProfsTer? | |
| XM_017027339.1:c.1802_1805dup | XP_016882828.1:p.Leu603ProfsTer? | |
| XM_017027340.1:c.1796_1799dup | XP_016882829.1:p.Leu601ProfsTer? | |
| NM_030957.4:c.3233_3236dup MANE Select | NP_112219.3:p.Leu1080ProfsTer? | |
| NM_001282352.2:c.1694_1697dup | NP_001269281.1:p.Leu567ProfsTer? |