Linked Data
dbSNP Id:
rs745351748
ExAC:
10:104595013 ATCT / A
gnomAD v2:
10-104595013-ATCT-A
gnomAD v4:
10-102835256-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835260_102835262del , CM000672.2:g.102835260_102835262del | GRCh38 |
| NC_000010.10:g.104595017_104595019del , CM000672.1:g.104595017_104595019del | GRCh37 |
| NC_000010.9:g.104585007_104585009del | NCBI36 |
| NG_007955.1:g.7275_7277del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.431_433del MANE Select | ENSP00000358903.3:p.Lys144del | |
| ENST00000638190.1:c.431_433del | ENSP00000492539.1:p.Lys144del | |
| ENST00000638272.1:c.297+1806_297+1808del | ENSP00000491508.1:n.297+1806_297+1808del | |
| ENST00000638971.1:c.431_433del | ENSP00000492313.1:p.Lys144del | |
| ENST00000639393.1:c.431_433del | ENSP00000492651.1:p.Lys144del | |
| ENST00000640633.1:n.193_195del | ||
| ENST00000369887.3:c.431_433del | ENSP00000358903.3:p.Lys144del | |
| ENST00000489268.1:n.685_687del | ||
| NM_000102.3:c.431_433del | NP_000093.1:p.Lys144del | |
| NM_000102.4:c.431_433del MANE Select | NP_000093.1:p.Lys144del |