Linked Data
gnomAD v4:
12-63146677-T-TAAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63146677_63146678insAAAG , CM000674.2:g.63146677_63146678insAAAG | GRCh38 |
| NC_000012.11:g.63540457_63540458insAAAG , CM000674.1:g.63540457_63540458insAAAG | GRCh37 |
| NC_000012.10:g.61826724_61826725insAAAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299178.4:c.*681_*682insCTTT MANE Select | ENSP00000299178.3:n.*681_*682insCTTT | |
| ENST00000299178.3:c.*681_*682insCTTT | ENSP00000299178.2:n.*681_*682insCTTT | |
| ENST00000550940.1:c.538+743_538+744insCTTT | ENSP00000449822.1:n.538+743_538+744insCTTT | |
| NM_000706.4:c.*681_*682insCTTT | NP_000697.1:n.*681_*682insCTTT | |
| XM_005269002.3:c.*681_*682insCTTT | XP_005269059.1:n.*681_*682insCTTT | |
| NM_000706.5:c.*681_*682insCTTT MANE Select | NP_000697.1:n.*681_*682insCTTT |