Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61378451_61378454delinsGTTT , CM000664.2:g.61378451_61378454delinsGTTT | GRCh38 |
| NC_000002.11:g.61605586_61605589delinsGTTT , CM000664.1:g.61605586_61605589delinsGTTT | GRCh37 |
| NC_000002.10:g.61459090_61459093delinsGTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398571.7:c.1015-30_1015-27delinsAAAC MANE Select | ENSP00000381577.2:n.1015-30_1015-27delinsAAAC | |
| ENST00000398571.6:c.1015-30_1015-27delinsAAAC | ENSP00000381577.2:n.1015-30_1015-27delinsAAAC | |
| ENST00000453133.1:c.541-30_541-27delinsAAAC | ||
| NM_014709.3:c.1015-30_1015-27delinsAAAC | NP_055524.3:n.1015-30_1015-27delinsAAAC | |
| NM_014709.4:c.1015-30_1015-27delinsAAAC MANE Select | NP_055524.3:n.1015-30_1015-27delinsAAAC |