Linked Data
gnomAD v4:
19-6713504-A-ACG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713504_6713505insCG , CM000681.2:g.6713504_6713505insCG | GRCh38 |
| NC_000019.9:g.6713515_6713516insCG , CM000681.1:g.6713515_6713516insCG | GRCh37 |
| NC_000019.8:g.6664515_6664516insCG | NCBI36 |
| NG_009557.1:g.12147_12148insCG , LRG_27:g.12147_12148insCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.655_656insCG | ENSP00000512083.1:p.Leu219ProfsTer? | |
| ENST00000695692.1:n.102_103insCG | ||
| ENST00000245907.11:c.778_779insCG MANE Select | ENSP00000245907.4:p.Leu260ProfsTer? | |
| ENST00000245907.10:c.778_779insCG | ENSP00000245907.4:p.Leu260ProfsTer? | |
| ENST00000595577.1:n.282_283insCG | ||
| ENST00000597442.5:n.28_29insCG | ||
| NM_000064.3:c.778_779insCG | NP_000055.2:p.Leu260ProfsTer? | |
| NM_000064.4:c.778_779insCG MANE Select | NP_000055.2:p.Leu260ProfsTer? |