Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869253_240869255delinsCTG , CM000664.2:g.240869253_240869255delinsCTG | GRCh38 |
| NC_000002.11:g.241808670_241808672delinsCTG , CM000664.1:g.241808670_241808672delinsCTG | GRCh37 |
| NC_000002.10:g.241457343_241457345delinsCTG | NCBI36 |
| NG_008005.1:g.5509_5511delinsCTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.249_251delinsCTG MANE Select | ENSP00000302620.3:p.His83= | |
| ENST00000307503.3:c.249_251delinsCTG | ENSP00000302620.3:p.His83= | |
| ENST00000472436.1:n.269_271delinsCTG | ||
| NM_000030.2:c.249_251delinsCTG | NP_000021.1:p.His83= | |
| XR_924060.1:n.405+978_405+980delinsCAG | ||
| NM_000030.3:c.249_251delinsCTG MANE Select | NP_000021.1:p.His83= |