Linked Data
dbSNP Id:
rs1732484307
gnomAD v2:
4-69512483-G-GTTTTTTTTTT
gnomAD v3:
4-68646765-G-GTTTTTTTTTT
gnomAD v4:
4-68646765-G-GTTTTTTTTTT
MyVariant Identifiers:
chr4:g.69512483_69512484insTTTTTTTTTT (hg19)
chr4:g.68646765_68646766insTTTTTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646769_68646770insTTTTTTTTTT , CM000666.2:g.68646769_68646770insTTTTTTTTTT | GRCh38 |
| NC_000004.11:g.69512487_69512488insTTTTTTTTTT , CM000666.1:g.69512487_69512488insTTTTTTTTTT | GRCh37 |
| NC_000004.10:g.69195082_69195083insTTTTTTTTTT | NCBI36 |
| NG_052676.1:g.29011_29012insAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*338_*339insAAAAAAAAAA MANE Select | ENSP00000341045.5:n.*338_*339insAAAAAAAAAA | |
| ENST00000338206.5:c.*338_*339insAAAAAAAAAA | ENSP00000341045.5:n.*338_*339insAAAAAAAAAA | |
| ENST00000616841.4:c.1732+199_1732+200insAAAAAAAAAA | ENSP00000482004.1:n.1732+199_1732+200insAAAAAAAAAA | |
| NM_001076.3:c.*338_*339insAAAAAAAAAA | NP_001067.2:n.*338_*339insAAAAAAAAAA | |
| NM_001076.4:c.*338_*339insAAAAAAAAAA MANE Select | NP_001067.2:n.*338_*339insAAAAAAAAAA |