Linked Data
gnomAD v4:
4-41746002-C-CGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746005_41746007dup , CM000666.2:g.41746005_41746007dup | GRCh38 |
| NC_000004.11:g.41748022_41748024dup , CM000666.1:g.41748022_41748024dup | GRCh37 |
| NC_000004.10:g.41442779_41442781dup | NCBI36 |
| NG_008243.1:g.7966_7968dup , LRG_513:g.7966_7968dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.747_749dup MANE Select | ENSP00000226382.2:p.Ala250_Ala251insAla | |
| ENST00000226382.3:c.747_749dup | ENSP00000226382.2:p.Ala250_Ala251insAla | |
| NM_003924.3:c.747_749dup , LRG_513t1:c.747_749dup | NP_003915.2:p.Ala250_Ala251insAla | |
| NM_003924.4:c.747_749dup MANE Select | NP_003915.2:p.Ala250_Ala251insAla |