Linked Data
dbSNP Id:
rs1235679438
gnomAD v2:
4-24801580-T-TCGGCA
gnomAD v4:
4-24799958-T-TCGGCA
MyVariant Identifiers:
chr4:g.24801580_24801581insCGGCA (hg19)
chr4:g.24799958_24799959insCGGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799959_24799963dup , CM000666.2:g.24799959_24799963dup | GRCh38 |
| NC_000004.11:g.24801581_24801585dup , CM000666.1:g.24801581_24801585dup | GRCh37 |
| NC_000004.10:g.24410679_24410683dup | NCBI36 |
| NG_012213.1:g.9497_9501dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.438_442dup MANE Select | ENSP00000371554.3:p.Asn148ThrfsTer? | |
| ENST00000382120.3:c.438_442dup | ENSP00000371554.3:p.Asn148ThrfsTer? | |
| NM_003102.2:c.438_442dup | NP_003093.2:p.Asn148ThrfsTer? | |
| XR_427488.1:n.628_632dup | ||
| NM_003102.3:c.438_442dup | NP_003093.2:p.Asn148ThrfsTer? | |
| NM_003102.4:c.438_442dup MANE Select | NP_003093.2:p.Asn148ThrfsTer? |