ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868867_240868868delinsAT , CM000664.2:g.240868867_240868868delinsAT | GRCh38 |
| NC_000002.11:g.241808284_241808285delinsAT , CM000664.1:g.241808284_241808285delinsAT | GRCh37 |
| NC_000002.10:g.241456957_241456958delinsAT | NCBI36 |
| NG_008005.1:g.5123_5124delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.2_3delinsAT MANE Select | ENSP00000302620.3:p.Met1Asn | |
| ENST00000307503.3:c.2_3delinsAT | ENSP00000302620.3:p.Met1Asn | |
| ENST00000472436.1:n.22_23delinsAT | ||
| NM_000030.2:c.2_3delinsAT | NP_000021.1:p.Met1Asn | |
| XR_924060.1:n.405+1365_405+1366delinsAT | ||
| NM_000030.3:c.2_3delinsAT MANE Select | NP_000021.1:p.Met1Asn |