Linked Data
gnomAD v4:
2-240877360-TTCCTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877362_240877367del , CM000664.2:g.240877362_240877367del | GRCh38 |
| NC_000002.11:g.241816779_241816784del , CM000664.1:g.241816779_241816784del | GRCh37 |
| NC_000002.10:g.241465452_241465457del | NCBI36 |
| NG_008005.1:g.13618_13623del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-175_847-170del MANE Select | ENSP00000302620.3:n.847-175_847-170del | |
| ENST00000307503.3:c.847-175_847-170del | ENSP00000302620.3:n.847-175_847-170del | |
| ENST00000470255.1:n.450_455del | ||
| NM_000030.2:c.847-175_847-170del | NP_000021.1:n.847-175_847-170del | |
| NM_000030.3:c.847-175_847-170del MANE Select | NP_000021.1:n.847-175_847-170del |