Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61378347_61378350del , CM000664.2:g.61378347_61378350del | GRCh38 |
| NC_000002.11:g.61605482_61605485del , CM000664.1:g.61605482_61605485del | GRCh37 |
| NC_000002.10:g.61458986_61458989del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398571.7:c.1076+16_1076+19del MANE Select | ENSP00000381577.2:n.1076+16_1076+19del | |
| ENST00000398571.6:c.1076+16_1076+19del | ENSP00000381577.2:n.1076+16_1076+19del | |
| ENST00000453133.1:c.602+16_602+19del | ||
| NM_014709.3:c.1076+16_1076+19del | NP_055524.3:n.1076+16_1076+19del | |
| NM_014709.4:c.1076+16_1076+19del MANE Select | NP_055524.3:n.1076+16_1076+19del |