Linked Data
ClinVar Variation Id:
422553
ClinVar RCV Id:
RCV000481082
dbSNP Id:
rs1064795855
gnomAD v4:
7-150946951-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150946955del , CM000669.2:g.150946955del | GRCh38 |
| NC_000007.13:g.150644043del , CM000669.1:g.150644043del | GRCh37 |
| NC_000007.12:g.150274976del | NCBI36 |
| NG_008916.1:g.35975del , LRG_288:g.35975del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.4088del | ||
| ENST00000262186.10:c.3255del MANE Select | ENSP00000262186.5:p.Pro1086LeufsTer? | |
| ENST00000330883.9:c.2235del | ENSP00000328531.4:p.Pro746LeufsTer? | |
| ENST00000262186.9:c.3255del | ENSP00000262186.5:p.Pro1086LeufsTer? | |
| ENST00000330883.8:c.2235del | ENSP00000328531.4:p.Pro746LeufsTer? | |
| NM_000238.3:c.3255del , LRG_288t1:c.3255del | NP_000229.1:p.Pro1086LeufsTer? | |
| NM_172057.2:c.2235del , LRG_288t3:c.2235del | NP_742054.1:p.Pro746LeufsTer? | |
| XM_011516185.1:c.2955del | XP_011514487.1:p.Pro986LeufsTer? | |
| XM_011516185.2:c.2955del | XP_011514487.1:p.Pro986LeufsTer? | |
| XM_017012195.1:c.3105del | XP_016867684.1:p.Pro1036LeufsTer? | |
| XM_017012196.1:c.3078del | XP_016867685.1:p.Pro1027LeufsTer? | |
| NM_000238.4:c.3255del MANE Select | NP_000229.1:p.Pro1086LeufsTer? | |
| NM_172057.3:c.2235del | NP_742054.1:p.Pro746LeufsTer? |