Linked Data
gnomAD v4:
14-23417747-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417752_23417754del , CM000676.2:g.23417752_23417754del | GRCh38 |
| NC_000014.8:g.23886961_23886963del , CM000676.1:g.23886961_23886963del | GRCh37 |
| NC_000014.7:g.22956801_22956803del | NCBI36 |
| NG_007884.1:g.22912_22914del , LRG_384:g.22912_22914del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4170-64_4170-62del MANE Select | ENSP00000347507.3:n.4170-64_4170-62del | |
| ENST00000355349.3:c.4170-64_4170-62del | ENSP00000347507.3:n.4170-64_4170-62del | |
| NM_000257.3:c.4170-64_4170-62del | NP_000248.2:n.4170-64_4170-62del | |
| XM_017021340.1:c.4170-64_4170-62del | XP_016876829.1:n.4170-64_4170-62del | |
| NM_000257.4:c.4170-64_4170-62del MANE Select | NP_000248.2:n.4170-64_4170-62del |