Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652620_171652621insAG , CM000663.2:g.171652620_171652621insAG | GRCh38 |
| NC_000001.10:g.171621760_171621761insAG , CM000663.1:g.171621760_171621761insAG | GRCh37 |
| NC_000001.9:g.169888383_169888384insAG | NCBI36 |
| NG_008859.1:g.5013_5014insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-10_-9insCT MANE Select | ENSP00000037502.5:n.-10_-9insCT | |
| ENST00000638471.1:c.-10_-9insCT | ENSP00000491206.1:n.-10_-9insCT | |
| ENST00000037502.10:c.-10_-9insCT | ENSP00000037502.5:n.-10_-9insCT | |
| ENST00000614688.1:c.-10_-9insCT | ENSP00000478680.1:n.-10_-9insCT | |
| NM_000261.1:c.-10_-9insCT | NP_000252.1:n.-10_-9insCT | |
| NM_000261.2:c.-10_-9insCT MANE Select | NP_000252.1:n.-10_-9insCT |