Linked Data
ClinVar Variation Id:
196107
ClinVar RCV Id:
RCV000176849
dbSNP Id:
rs794727460
gnomAD v4:
19-38473682-CG-C
MyVariant Identifiers:
chr19:g.38964327del (hg19)
chr19:g.38964327delG (hg19)
chr19:g.38473687del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38473687del , CM000681.2:g.38473687del | GRCh38 |
| NC_000019.9:g.38964327del , CM000681.1:g.38964327del | GRCh37 |
| NC_000019.8:g.43656167del | NCBI36 |
| NG_008866.1:g.44988del , LRG_766:g.44988del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599547.6:c.4076del | ENSP00000471601.2:p.Gly1359AlafsTer? | |
| ENST00000359596.8:c.4076del MANE Select | ENSP00000352608.2:p.Gly1359AlafsTer? | |
| ENST00000355481.8:c.4076del | ENSP00000347667.3:p.Gly1359AlafsTer? | |
| ENST00000359596.7:c.4076del | ENSP00000352608.2:p.Gly1359AlafsTer? | |
| ENST00000360985.7:c.4076del | ENSP00000354254.4:p.Gly1359AlafsTer? | |
| NM_000540.2:c.4076del , LRG_766t1:c.4076del | NP_000531.2:p.Gly1359AlafsTer? | |
| NM_001042723.1:c.4076del | NP_001036188.1:p.Gly1359AlafsTer? | |
| XM_006723317.1:c.4076del | XP_006723380.1:p.Gly1359AlafsTer? | |
| XM_006723319.1:c.4076del | XP_006723382.1:p.Gly1359AlafsTer? | |
| XM_011527204.1:c.4073del | XP_011525506.1:p.Gly1358AlafsTer? | |
| XM_011527205.1:c.4076del | XP_011525507.1:p.Gly1359AlafsTer? | |
| XM_006723317.2:c.4076del | XP_006723380.1:p.Gly1359AlafsTer? | |
| XM_006723319.2:c.4076del | XP_006723382.1:p.Gly1359AlafsTer? | |
| XM_011527205.2:c.4076del | XP_011525507.1:p.Gly1359AlafsTer? | |
| XR_001753735.1:n.4159del | ||
| NM_000540.3:c.4076del MANE Select | NP_000531.2:p.Gly1359AlafsTer? | |
| NM_001042723.2:c.4076del | NP_001036188.1:p.Gly1359AlafsTer? |