Linked Data
gnomAD v4:
12-6031651-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6031652_6031653del , CM000674.2:g.6031652_6031653del | GRCh38 |
| NC_000012.11:g.6140818_6140819del , CM000674.1:g.6140818_6140819del | GRCh37 |
| NC_000012.10:g.6011079_6011080del | NCBI36 |
| NG_009072.1:g.98018_98019del | |
| NG_009072.2:g.98018_98019del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2686-75_2686-74del MANE Select | ENSP00000261405.5:n.2686-75_2686-74del | |
| ENST00000261405.9:c.2686-75_2686-74del | ENSP00000261405.5:n.2686-75_2686-74del | |
| ENST00000538635.5:n.421-37719_421-37718del | ||
| NM_000552.3:c.2686-75_2686-74del | NP_000543.2:n.2686-75_2686-74del | |
| NM_000552.4:c.2686-75_2686-74del | NP_000543.2:n.2686-75_2686-74del | |
| NM_000552.5:c.2686-75_2686-74del MANE Select | NP_000543.3:n.2686-75_2686-74del |