Linked Data
gnomAD v4:
21-45990549-G-GATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990549_45990550insATC , CM000683.2:g.45990549_45990550insATC | GRCh38 |
| NC_000021.8:g.47410463_47410464insATC , CM000683.1:g.47410463_47410464insATC | GRCh37 |
| NC_000021.7:g.46234891_46234892insATC | NCBI36 |
| NG_008674.1:g.13801_13802insATC , LRG_475:g.13801_13802insATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+127_1002+128insATC MANE Select | ENSP00000355180.3:n.1002+127_1002+128insATC | |
| ENST00000361866.7:c.1002+127_1002+128insATC | ENSP00000355180.3:n.1002+127_1002+128insATC | |
| ENST00000612273.1:c.1002+127_1002+128insATC | ENSP00000483630.1:n.1002+127_1002+128insATC | |
| NM_001848.2:c.1002+127_1002+128insATC , LRG_475t1:c.1002+127_1002+128insATC | NP_001839.2:n.1002+127_1002+128insATC | |
| NM_001848.3:c.1002+127_1002+128insATC MANE Select | NP_001839.2:n.1002+127_1002+128insATC |