Linked Data
gnomAD v4:
2-240869421-CTCCCTCTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869423_240869431del , CM000664.2:g.240869423_240869431del | GRCh38 |
| NC_000002.11:g.241808840_241808848del , CM000664.1:g.241808840_241808848del | GRCh37 |
| NC_000002.10:g.241457513_241457521del | NCBI36 |
| NG_008005.1:g.5679_5687del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+61_358+69del MANE Select | ENSP00000302620.3:n.358+61_358+69del | |
| ENST00000307503.3:c.358+61_358+69del | ENSP00000302620.3:n.358+61_358+69del | |
| ENST00000472436.1:n.378+61_378+69del | ||
| NM_000030.2:c.358+61_358+69del | NP_000021.1:n.358+61_358+69del | |
| XR_924060.1:n.405+803_405+811del | ||
| NM_000030.3:c.358+61_358+69del MANE Select | NP_000021.1:n.358+61_358+69del |