Linked Data
gnomAD v4:
2-240878614-CCTCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878619_240878622del , CM000664.2:g.240878619_240878622del | GRCh38 |
| NC_000002.11:g.241818036_241818039del , CM000664.1:g.241818036_241818039del | GRCh37 |
| NC_000002.10:g.241466709_241466712del | NCBI36 |
| NG_008005.1:g.14875_14878del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.1072-95_1072-92del MANE Select | ENSP00000302620.3:n.1072-95_1072-92del | |
| ENST00000307503.3:c.1072-95_1072-92del | ENSP00000302620.3:n.1072-95_1072-92del | |
| ENST00000470255.1:n.850-95_850-92del | ||
| NM_000030.2:c.1072-95_1072-92del | NP_000021.1:n.1072-95_1072-92del | |
| NM_000030.3:c.1072-95_1072-92del MANE Select | NP_000021.1:n.1072-95_1072-92del |