Linked Data
ClinVar Variation Id:
236470
dbSNP Id:
rs878853364
gnomAD v4:
1-197421440-C-CCTTA
MyVariant Identifiers:
chr1:g.197390570_197390571insCTTA (hg19)
chr1:g.197421440_197421441insCTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421440_197421441insCTTA , CM000663.2:g.197421440_197421441insCTTA | GRCh38 |
| NC_000001.10:g.197390570_197390571insCTTA , CM000663.1:g.197390570_197390571insCTTA | GRCh37 |
| NC_000001.9:g.195657193_195657194insCTTA | NCBI36 |
| NG_008483.1:g.158163_158164insCTTA | |
| NG_008483.2:g.224979_224980insCTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1612_1613insCTTA MANE Select | ENSP00000356370.3:p.Leu538ProfsTer14 | |
| ENST00000638467.1:c.1612_1613insCTTA | ENSP00000491102.1:p.Leu538ProfsTer14 | |
| ENST00000681519.1:c.493_494insCTTA | ENSP00000505267.1:p.Leu165ProfsTer14 | |
| ENST00000367397.1:c.-246_-245insCTTA | ENSP00000356367.1:n.-246_-245insCTTA | |
| ENST00000367399.6:c.1276_1277insCTTA | ENSP00000356369.2:p.Leu426ProfsTer14 | |
| ENST00000367400.7:c.1612_1613insCTTA | ENSP00000356370.3:p.Leu538ProfsTer14 | |
| ENST00000476483.1:n.572_573insCTTA | ||
| ENST00000484075.5:c.1612_1613insCTTA | ENSP00000433932.1:p.Leu538ProfsTer14 | |
| ENST00000535699.5:c.1405_1406insCTTA | ENSP00000438786.1:p.Leu469ProfsTer14 | |
| ENST00000538660.5:c.1612_1613insCTTA | ENSP00000438091.1:p.Leu538ProfsTer14 | |
| NM_001193640.1:c.1276_1277insCTTA | NP_001180569.1:p.Leu426ProfsTer14 | |
| NM_001257965.1:c.1405_1406insCTTA | NP_001244894.1:p.Leu469ProfsTer14 | |
| NM_001257966.1:c.1612_1613insCTTA | NP_001244895.1:p.Leu538ProfsTer14 | |
| NM_201253.2:c.1612_1613insCTTA | NP_957705.1:p.Leu538ProfsTer14 | |
| NR_047563.1:n.1821_1822insCTTA | ||
| NR_047564.1:n.1821_1822insCTTA | ||
| XM_011509365.1:c.1612_1613insCTTA | XP_011507667.1:p.Leu538ProfsTer14 | |
| XM_011509366.1:c.1612_1613insCTTA | XP_011507668.1:p.Leu538ProfsTer14 | |
| XM_011509367.1:c.1612_1613insCTTA | XP_011507669.1:p.Leu538ProfsTer14 | |
| XM_011509368.1:c.1030_1031insCTTA | XP_011507670.1:p.Leu344ProfsTer14 | |
| XM_011509369.1:c.55_56insCTTA | XP_011507671.1:p.Leu19ProfsTer14 | |
| XM_011509365.2:c.1612_1613insCTTA | XP_011507667.1:p.Leu538ProfsTer14 | |
| XM_011509369.2:c.55_56insCTTA | XP_011507671.1:p.Leu19ProfsTer14 | |
| XM_017000851.1:c.769_770insCTTA | XP_016856340.1:p.Leu257ProfsTer14 | |
| XM_017000852.1:c.1612_1613insCTTA | XP_016856341.1:p.Leu538ProfsTer14 | |
| NM_201253.3:c.1612_1613insCTTA MANE Select | NP_957705.1:p.Leu538ProfsTer14 | |
| NM_001193640.2:c.1276_1277insCTTA | NP_001180569.1:p.Leu426ProfsTer14 | |
| NM_001257965.2:c.1405_1406insCTTA | NP_001244894.1:p.Leu469ProfsTer14 | |
| NR_047563.2:n.1773_1774insCTTA | ||
| NR_047564.2:n.1773_1774insCTTA | ||
| NM_001257966.2:c.1612_1613insCTTA | NP_001244895.1:p.Leu538ProfsTer14 |