Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867168_40867169delinsTG , CM000679.2:g.40867168_40867169delinsTG | GRCh38 |
| NC_000017.10:g.39023420_39023421delinsTG , CM000679.1:g.39023420_39023421delinsTG | GRCh37 |
| NC_000017.9:g.36276946_36276947delinsTG | NCBI36 |
| NG_008077.1:g.5042_5043delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.18_19delinsCA MANE Select | ENSP00000251643.4:p.Asn6= | |
| ENST00000647902.1:c.18_19delinsCA | ENSP00000497770.1:p.Asn6= | |
| ENST00000251643.4:c.18_19delinsCA | ENSP00000251643.4:p.Asn6= | |
| NM_000223.3:c.18_19delinsCA | NP_000214.1:p.Asn6= | |
| XR_934754.1:n.1500+16308_1500+16309delinsTG | ||
| XR_934754.2:n.2008+16308_2008+16309delinsTG | ||
| NM_000223.4:c.18_19delinsCA MANE Select | NP_000214.1:p.Asn6= |