Linked Data
dbSNP Id:
rs61677533
gnomAD v3:
14-23423436-A-AACACACACACACACACACACACAC
gnomAD v4:
14-23423436-A-AACACACACACACACACACACACAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423464_23423487dup , CM000676.2:g.23423464_23423487dup | GRCh38 |
| NC_000014.8:g.23892673_23892696dup , CM000676.1:g.23892673_23892696dup | GRCh37 |
| NC_000014.7:g.22962513_22962536dup | NCBI36 |
| NG_007884.1:g.17202_17225dup , LRG_384:g.17202_17225dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3099+87_3099+110dup MANE Select | ENSP00000347507.3:n.3099+87_3099+110dup | |
| ENST00000355349.3:c.3099+87_3099+110dup | ENSP00000347507.3:n.3099+87_3099+110dup | |
| NM_000257.3:c.3099+87_3099+110dup | NP_000248.2:n.3099+87_3099+110dup | |
| XR_245686.3:n.3205+87_3205+110dup | ||
| XM_017021340.1:c.3099+87_3099+110dup | XP_016876829.1:n.3099+87_3099+110dup | |
| NM_000257.4:c.3099+87_3099+110dup MANE Select | NP_000248.2:n.3099+87_3099+110dup |