Linked Data
dbSNP Id:
rs1395412373
gnomAD v2:
1-196712693-A-AC
gnomAD v3:
1-196743563-A-AC
gnomAD v4:
1-196743563-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743563_196743564insC , CM000663.2:g.196743563_196743564insC | GRCh38 |
| NC_000001.10:g.196712693_196712694insC , CM000663.1:g.196712693_196712694insC | GRCh37 |
| NC_000001.9:g.194979316_194979317insC | NCBI36 |
| NG_007259.1:g.96553_96554insC , LRG_47:g.96553_96554insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4273_4274insC | ||
| ENST00000695970.1:c.3071_3072insC | ENSP00000512297.1:p.Glu1024AspfsTer6 | |
| ENST00000695971.1:c.3224_3225insC | ENSP00000512298.1:p.Glu1075AspfsTer6 | |
| ENST00000695972.1:c.*322_*323insC | ENSP00000512299.1:n.*322_*323insC | |
| ENST00000695973.1:c.*1609_*1610insC | ENSP00000512300.1:n.*1609_*1610insC | |
| ENST00000695974.1:c.3068_3069insC | ENSP00000512301.1:p.Glu1023AspfsTer6 | |
| ENST00000695975.1:c.*1372_*1373insC | ENSP00000512302.1:n.*1372_*1373insC | |
| ENST00000695976.1:c.3056_3057insC | ENSP00000512303.1:p.Glu1019AspfsTer6 | |
| ENST00000695981.1:c.3245_3246insC | ENSP00000512306.1:p.Glu1082AspfsTer6 | |
| ENST00000695984.1:c.1253_1254insC | ENSP00000512309.1:p.Glu418AspfsTer6 | |
| ENST00000695986.1:c.*2896_*2897insC | ENSP00000512311.1:n.*2896_*2897insC | |
| ENST00000696026.1:c.*1527_*1528insC | ENSP00000512335.1:n.*1527_*1528insC | |
| ENST00000696027.1:c.3239_3240insC | ENSP00000512336.1:p.Glu1080AspfsTer6 | |
| ENST00000696028.1:c.3173_3174insC | ENSP00000512337.1:p.Glu1058AspfsTer6 | |
| ENST00000696029.1:c.3239_3240insC | ENSP00000512338.1:p.Glu1080AspfsTer6 | |
| ENST00000696031.1:c.*2763_*2764insC | ENSP00000512340.1:n.*2763_*2764insC | |
| ENST00000696032.1:c.3245_3246insC | ENSP00000512341.1:p.Glu1082AspfsTer6 | |
| ENST00000696033.1:c.1160-36234_1160-36233insC | ENSP00000512342.1:n.1160-36234_1160-36233... | |
| ENST00000367429.9:c.3245_3246insC MANE Select | ENSP00000356399.4:p.Glu1082AspfsTer6 | |
| ENST00000367429.8:c.3245_3246insC | ENSP00000356399.4:p.Glu1082AspfsTer6 | |
| ENST00000466229.5:n.6343_6344insC | ||
| NM_000186.3:c.3245_3246insC , LRG_47t1:c.3245_3246insC | NP_000177.2:p.Glu1082AspfsTer6 | |
| XR_001737134.2:n.3431_3432insC | ||
| NM_000186.4:c.3245_3246insC MANE Select | NP_000177.2:p.Glu1082AspfsTer6 |