Linked Data
dbSNP Id:
rs1457676964
gnomAD v2:
7-92146660-C-CCTGGACTCAAG
MyVariant Identifiers:
chr7:g.92146660_92146661insCTGGACTCAAG (hg19)
chr7:g.92517346_92517347insCTGGACTCAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517347_92517348insTGGACTCAAGC , CM000669.2:g.92517347_92517348insTGGACTCAAGC | GRCh38 |
| NC_000007.13:g.92146661_92146662insTGGACTCAAGC , CM000669.1:g.92146661_92146662insTGGACTCAAGC | GRCh37 |
| NC_000007.12:g.91984597_91984598insTGGACTCAAGC | NCBI36 |
| NG_008341.1:g.16185_16186insCTTGAGTCCAG | |
| NG_008341.2:g.16185_16186insCTTGAGTCCAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1168_1169insCTTGAGTCCAG MANE Select | ENSP00000248633.4:p.Gly390AlafsTer2 | |
| ENST00000248633.8:c.1168_1169insCTTGAGTCCAG | ENSP00000248633.4:p.Gly390AlafsTer2 | |
| ENST00000422866.1:c.69_70insCTTGAGTCCAG | ||
| ENST00000428214.5:c.1168_1169insCTTGAGTCCAG | ENSP00000394413.1:p.Gly390AlafsTer2 | |
| ENST00000438045.5:c.274-3380_274-3379insCTTGAGTCCAG | ENSP00000410438.1:n.274-3380_274-3379insC... | |
| ENST00000484913.5:n.1207_1208insCTTGAGTCCAG | ||
| NM_000466.2:c.1168_1169insCTTGAGTCCAG | NP_000457.1:p.Gly390AlafsTer2 | |
| NM_001282677.1:c.1168_1169insCTTGAGTCCAG | NP_001269606.1:p.Gly390AlafsTer2 | |
| NM_001282678.1:c.544_545insCTTGAGTCCAG | NP_001269607.1:p.Gly182AlafsTer2 | |
| XR_242246.3:n.1264_1265insCTTGAGTCCAG | ||
| XM_017012319.2:c.-499_-498insCTTGAGTCCAG | XP_016867808.1:n.-499_-498insCTTGAGTCCAG | |
| XR_001744808.2:n.278_279insCTTGAGTCCAG | ||
| XR_242246.5:n.1215_1216insCTTGAGTCCAG | ||
| NM_000466.3:c.1168_1169insCTTGAGTCCAG MANE Select | NP_000457.1:p.Gly390AlafsTer2 | |
| NM_001282677.2:c.1168_1169insCTTGAGTCCAG | NP_001269606.1:p.Gly390AlafsTer2 | |
| NM_001282678.2:c.544_545insCTTGAGTCCAG | NP_001269607.1:p.Gly182AlafsTer2 |