Linked Data
dbSNP Id:
rs760399775
ExAC:
5:1213684 C / CAGGGAGGT
gnomAD v4:
5-1213569-C-CAGGGAGGT
MyVariant Identifiers:
chr5:g.1213684_1213685insAGGGAGGT (hg19)
chr5:g.1213569_1213570insAGGGAGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213569_1213570insAGGGAGGT , CM000667.2:g.1213569_1213570insAGGGAGGT | GRCh38 |
| NC_000005.9:g.1213684_1213685insAGGGAGGT , CM000667.1:g.1213684_1213685insAGGGAGGT | GRCh37 |
| NC_000005.8:g.1266684_1266685insAGGGAGGT | NCBI36 |
| NG_008282.1:g.16975_16976insAGGGAGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.770_771insAGGGAGGT MANE Select | ENSP00000305302.10:p.Asn258GlyfsTer? | |
| ENST00000304460.10:c.770_771insAGGGAGGT | ENSP00000305302.10:p.Asn258GlyfsTer? | |
| ENST00000515652.5:c.678_679insAGGGAGGT | ENSP00000425701.1:p.Gln227ArgfsTer? | |
| NM_001003841.2:c.770_771insAGGGAGGT | NP_001003841.1:p.Asn258GlyfsTer? | |
| NM_001003841.3:c.770_771insAGGGAGGT MANE Select | NP_001003841.1:p.Asn258GlyfsTer? |