Linked Data
dbSNP Id:
rs1158988317
gnomAD v2:
2-203397642-T-TA
gnomAD v3:
2-202532919-T-TA
gnomAD v4:
2-202532919-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202532919_202532920insA , CM000664.2:g.202532919_202532920insA | GRCh38 |
| NC_000002.11:g.203397642_203397643insA , CM000664.1:g.203397642_203397643insA | GRCh37 |
| NC_000002.10:g.203105887_203105888insA | NCBI36 |
| NG_009363.1:g.161593_161594insA , LRG_712:g.161593_161594insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1276+187_1276+188insA MANE Select | ENSP00000363708.4:n.1276+187_1276+188insA | |
| ENST00000638587.1:c.1207+187_1207+188insA | ENSP00000491062.1:n.1207+187_1207+188insA | |
| ENST00000374574.2:c.1276+187_1276+188insA | ENSP00000363702.2:n.1276+187_1276+188insA | |
| ENST00000374580.8:c.1276+187_1276+188insA | ENSP00000363708.4:n.1276+187_1276+188insA | |
| NM_001204.6:c.1276+187_1276+188insA , LRG_712t1:c.1276+187_1276+188insA | NP_001195.2:n.1276+187_1276+188insA | |
| XM_011511687.1:c.1276+187_1276+188insA | XP_011509989.1:n.1276+187_1276+188insA | |
| XM_011511688.1:c.1276+187_1276+188insA | XP_011509990.1:n.1276+187_1276+188insA | |
| NM_001204.7:c.1276+187_1276+188insA MANE Select | NP_001195.2:n.1276+187_1276+188insA |