Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868985_240868986delinsCG , CM000664.2:g.240868985_240868986delinsCG | GRCh38 |
| NC_000002.11:g.241808402_241808403delinsCG , CM000664.1:g.241808402_241808403delinsCG | GRCh37 |
| NC_000002.10:g.241457075_241457076delinsCG | NCBI36 |
| NG_008005.1:g.5241_5242delinsCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.120_121delinsCG MANE Select | ENSP00000302620.3:p.Ala40= | |
| ENST00000307503.3:c.120_121delinsCG | ENSP00000302620.3:p.Ala40= | |
| ENST00000472436.1:n.140_141delinsCG | ||
| NM_000030.2:c.120_121delinsCG | NP_000021.1:p.Ala40= | |
| XR_924060.1:n.405+1247_405+1248delinsCG | ||
| NM_000030.3:c.120_121delinsCG MANE Select | NP_000021.1:p.Ala40= |