Linked Data
ClinVar Variation Id:
419404
ClinVar RCV Id:
RCV000486433
dbSNP Id:
rs1064793849
gnomAD v2:
9-126136100-CCT-C
gnomAD v4:
9-123373821-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123373822_123373823del , CM000671.2:g.123373822_123373823del | GRCh38 |
| NC_000009.11:g.126136101_126136102del , CM000671.1:g.126136101_126136102del | GRCh37 |
| NC_000009.10:g.125175922_125175923del | NCBI36 |
| NG_051311.1:g.24758_24759del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373631.8:c.3291_3292del MANE Select | ENSP00000362734.3:p.Cys1098SerfsTer? | |
| ENST00000359999.7:c.3291_3292del | ENSP00000353092.3:p.Cys1098SerfsTer? | |
| ENST00000373631.7:c.3291_3292del | ENSP00000362734.3:p.Cys1098SerfsTer? | |
| ENST00000460253.1:c.2295_2296del | ENSP00000435279.1:p.Cys766SerfsTer? | |
| NM_173689.6:c.3291_3292del | NP_775960.4:p.Cys1098SerfsTer? | |
| NR_104603.1:n.2405_2406del | ||
| XM_005251934.1:c.2295_2296del | XP_005251991.1:p.Cys766SerfsTer? | |
| XM_011518556.1:c.3264_3265del | XP_011516858.1:p.Cys1089SerfsTer? | |
| XM_011518557.1:c.3096_3097del | XP_011516859.1:p.Cys1033SerfsTer? | |
| XM_011518558.1:c.3096_3097del | XP_011516860.1:p.Cys1033SerfsTer? | |
| XM_005251934.3:c.2295_2296del | XP_005251991.1:p.Cys766SerfsTer? | |
| XM_011518556.3:c.3264_3265del | XP_011516858.1:p.Cys1089SerfsTer? | |
| XM_011518557.3:c.3096_3097del | XP_011516859.1:p.Cys1033SerfsTer? | |
| XM_011518558.3:c.3096_3097del | XP_011516860.1:p.Cys1033SerfsTer? | |
| NM_173689.7:c.3291_3292del MANE Select | NP_775960.4:p.Cys1098SerfsTer? | |
| NR_104603.2:n.2405_2406del |