Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878694_240878695delinsGC , CM000664.2:g.240878694_240878695delinsGC | GRCh38 |
| NC_000002.11:g.241818111_241818112delinsGC , CM000664.1:g.241818111_241818112delinsGC | GRCh37 |
| NC_000002.10:g.241466784_241466785delinsGC | NCBI36 |
| NG_008005.1:g.14950_14951delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.1072-20_1072-19delinsGC MANE Select | ENSP00000302620.3:n.1072-20_1072-19delins... | |
| ENST00000307503.3:c.1072-20_1072-19delinsGC | ENSP00000302620.3:n.1072-20_1072-19delins... | |
| ENST00000470255.1:n.850-20_850-19delinsGC | ||
| NM_000030.2:c.1072-20_1072-19delinsGC | NP_000021.1:n.1072-20_1072-19delinsGC | |
| NM_000030.3:c.1072-20_1072-19delinsGC MANE Select | NP_000021.1:n.1072-20_1072-19delinsGC |