Linked Data
gnomAD v2:
12-116440953-TAGGGCAGC-T
MyVariant Identifiers:
chr12:g.116440954_116440961del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116003150_116003157del , CM000674.2:g.116003150_116003157del | GRCh38 |
| NC_000012.11:g.116440955_116440962del , CM000674.1:g.116440955_116440962del | GRCh37 |
| NC_000012.10:g.114925338_114925345del | NCBI36 |
| NG_023366.1:g.279031_279038del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2470-54_2470-47del MANE Select | ENSP00000281928.3:n.2470-54_2470-47del | |
| ENST00000548743.2:c.2440-54_2440-47del | ENSP00000448553.2:n.2440-54_2440-47del | |
| ENST00000549786.2:c.1898-54_1898-47del | ||
| ENST00000648173.1:n.1265-54_1265-47del | ||
| ENST00000648379.1:n.784_791del | ||
| ENST00000648737.1:n.2234-54_2234-47del | ||
| ENST00000648916.1:n.481-54_481-47del | ||
| ENST00000649607.1:c.657-54_657-47del | ||
| ENST00000650226.1:c.2470-54_2470-47del | ENSP00000496981.1:n.2470-54_2470-47del | |
| ENST00000281928.7:c.2470-54_2470-47del | ENSP00000281928.3:n.2470-54_2470-47del | |
| NM_015335.4:c.2470-54_2470-47del | NP_056150.1:n.2470-54_2470-47del | |
| XM_011538080.1:c.2470-54_2470-47del | XP_011536382.1:n.2470-54_2470-47del | |
| XM_011538081.1:c.2470-54_2470-47del | XP_011536383.1:n.2470-54_2470-47del | |
| XM_011538082.1:c.2440-54_2440-47del | XP_011536384.1:n.2440-54_2440-47del | |
| XM_011538080.2:c.2470-54_2470-47del | XP_011536382.1:n.2470-54_2470-47del | |
| XM_011538081.2:c.2470-54_2470-47del | XP_011536383.1:n.2470-54_2470-47del | |
| XM_011538082.2:c.2440-54_2440-47del | XP_011536384.1:n.2440-54_2440-47del | |
| XM_017019090.1:c.2470-54_2470-47del | XP_016874579.1:n.2470-54_2470-47del | |
| NM_015335.5:c.2470-54_2470-47del MANE Select | NP_056150.1:n.2470-54_2470-47del |