Linked Data
dbSNP Id:
rs1555444383
gnomAD v2:
14-105996115-AC-A
gnomAD v4:
14-105529778-AC-A
MyVariant Identifiers:
chr14:g.105996116del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105529783del , CM000676.2:g.105529783del | GRCh38 |
| NC_000014.8:g.105996120del , CM000676.1:g.105996120del | GRCh37 |
| NC_000014.7:g.105067165del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392519.7:c.949del MANE Select | ENSP00000376304.2:p.Leu317TrpfsTer? | |
| ENST00000392519.6:c.949del | ENSP00000376304.2:p.Leu317TrpfsTer? | |
| ENST00000431372.1:c.949del | ENSP00000407456.1:p.Leu317TrpfsTer? | |
| NM_025268.2:c.949del | NP_079544.1:p.Leu317TrpfsTer? | |
| XM_005268101.2:c.949del | XP_005268158.1:p.Leu317TrpfsTer? | |
| XM_006720261.2:c.949del | XP_006720324.1:p.Leu317TrpfsTer? | |
| XM_011537185.1:c.949del | XP_011535487.1:p.Leu317TrpfsTer? | |
| XM_011537186.1:c.949del | XP_011535488.1:p.Leu317TrpfsTer? | |
| NM_001331238.1:c.949del | NP_001318167.1:p.Leu317TrpfsTer? | |
| NM_025268.3:c.949del | NP_079544.1:p.Leu317TrpfsTer? | |
| XM_006720261.3:c.949del | XP_006720324.1:p.Leu317TrpfsTer? | |
| NM_025268.4:c.949del MANE Select | NP_079544.1:p.Leu317TrpfsTer? | |
| NM_001331238.2:c.949del | NP_001318167.1:p.Leu317TrpfsTer? |