Linked Data
gnomAD v4:
14-23417756-GAACCTTCTCAAAGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417759_23417773del , CM000676.2:g.23417759_23417773del | GRCh38 |
| NC_000014.8:g.23886968_23886982del , CM000676.1:g.23886968_23886982del | GRCh37 |
| NC_000014.7:g.22956808_22956822del | NCBI36 |
| NG_007884.1:g.22891_22905del , LRG_384:g.22891_22905del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4170-85_4170-71del MANE Select | ENSP00000347507.3:n.4170-85_4170-71del | |
| ENST00000355349.3:c.4170-85_4170-71del | ENSP00000347507.3:n.4170-85_4170-71del | |
| NM_000257.3:c.4170-85_4170-71del | NP_000248.2:n.4170-85_4170-71del | |
| XM_017021340.1:c.4170-85_4170-71del | XP_016876829.1:n.4170-85_4170-71del | |
| NM_000257.4:c.4170-85_4170-71del MANE Select | NP_000248.2:n.4170-85_4170-71del |