Linked Data
gnomAD v4:
14-23419655-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419657dup , CM000676.2:g.23419657dup | GRCh38 |
| NC_000014.8:g.23888866dup , CM000676.1:g.23888866dup | GRCh37 |
| NC_000014.7:g.22958706dup | NCBI36 |
| NG_007884.1:g.21006dup , LRG_384:g.21006dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3727-47dup MANE Select | ENSP00000347507.3:n.3727-47dup | |
| ENST00000355349.3:c.3727-47dup | ENSP00000347507.3:n.3727-47dup | |
| NM_000257.3:c.3727-47dup | NP_000248.2:n.3727-47dup | |
| XM_017021340.1:c.3727-47dup | XP_016876829.1:n.3727-47dup | |
| NM_000257.4:c.3727-47dup MANE Select | NP_000248.2:n.3727-47dup |