Linked Data
dbSNP Id:
rs752715970
ExAC:
7:100230913 T / TTC
gnomAD v2:
7-100230913-T-TTC
gnomAD v4:
7-100633290-T-TTC
MyVariant Identifiers:
chr7:g.100230913_100230914insTC (hg19)
chr7:g.100633290_100633291insTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633290_100633291insTC , CM000669.2:g.100633290_100633291insTC | GRCh38 |
| NC_000007.13:g.100230913_100230914insTC , CM000669.1:g.100230913_100230914insTC | GRCh37 |
| NC_000007.12:g.100068849_100068850insTC | NCBI36 |
| NG_007989.1:g.13260_13261insGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.664_665insGA MANE Select | ENSP00000223051.3:p.Glu222GlyfsTer? | |
| ENST00000223051.7:c.664_665insGA | ENSP00000223051.3:p.Glu222GlyfsTer? | |
| ENST00000431692.5:c.664_665insGA | ENSP00000413905.1:p.Glu222GlyfsTer? | |
| ENST00000462107.1:c.664_665insGA | ENSP00000420525.1:p.Glu222GlyfsTer? | |
| ENST00000465294.5:n.669_670insGA | ||
| ENST00000473374.5:n.114_115insGA | ||
| ENST00000473571.1:n.118_119insGA | ||
| ENST00000475011.1:n.193_194insGA | ||
| ENST00000476304.5:n.285_286insGA | ||
| NM_001206855.1:c.151_152insGA | NP_001193784.1:p.Glu51GlyfsTer? | |
| NM_003227.3:c.664_665insGA | NP_003218.2:p.Glu222GlyfsTer? | |
| XM_005250553.3:c.664_665insGA | XP_005250610.1:p.Glu222GlyfsTer? | |
| XM_005250554.3:c.664_665insGA | XP_005250611.1:p.Glu222GlyfsTer? | |
| NM_001206855.2:c.151_152insGA | NP_001193784.1:p.Glu51GlyfsTer? | |
| XM_005250553.4:c.664_665insGA | XP_005250610.1:p.Glu222GlyfsTer? | |
| XM_017012573.1:c.664_665insGA | XP_016868062.1:p.Glu222GlyfsTer? | |
| NM_003227.4:c.664_665insGA MANE Select | NP_003218.2:p.Glu222GlyfsTer? | |
| NM_001206855.3:c.151_152insGA | NP_001193784.1:p.Glu51GlyfsTer? |