Linked Data
ClinVar Variation Id:
375336
dbSNP Id:
rs764587648
ExAC:
19:41209691 CA / C
gnomAD v2:
19-41209691-CA-C
gnomAD v3:
19-40703786-CA-C
gnomAD v4:
19-40703786-CA-C
MyVariant Identifiers:
chr19:g.41209692del (hg19)
chr19:g.40703788del (hg38)
chr19:g.40703787del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40703789del , CM000681.2:g.40703789del | GRCh38 |
| NC_000019.9:g.41209694del , CM000681.1:g.41209694del | GRCh37 |
| NC_000019.8:g.45901534del | NCBI36 |
| NG_027800.1:g.18099del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324464.8:c.645del MANE Select | ENSP00000315118.3:p.Phe215LeufsTer14 | |
| ENST00000593724.2:n.393-165del | ||
| ENST00000594490.6:c.567del | ENSP00000471310.2:p.Phe189LeufsTer14 | |
| ENST00000594720.6:c.645del | ENSP00000470876.2:p.Phe215LeufsTer14 | |
| ENST00000596455.6:n.937del | ||
| ENST00000601967.6:c.645del | ENSP00000470916.2:p.Phe215LeufsTer14 | |
| ENST00000676555.1:c.645del | ENSP00000503387.1:p.Phe215LeufsTer14 | |
| ENST00000676578.1:c.*387del | ENSP00000504076.1:n.*387del | |
| ENST00000676960.1:n.770del | ||
| ENST00000676962.1:n.924del | ||
| ENST00000677018.1:c.645del | ENSP00000503480.1:p.Phe215LeufsTer14 | |
| ENST00000677039.1:n.700del | ||
| ENST00000677399.1:n.1087del | ||
| ENST00000677496.1:c.318del | ENSP00000504773.1:p.Phe106LeufsTer14 | |
| ENST00000677517.1:c.318del | ENSP00000503519.1:p.Phe106LeufsTer14 | |
| ENST00000677633.1:c.*68del | ENSP00000503645.1:n.*68del | |
| ENST00000677800.1:c.*3749del | ENSP00000503794.1:n.*3749del | |
| ENST00000678057.1:c.*209del | ENSP00000503762.1:n.*209del | |
| ENST00000678119.1:n.839del | ||
| ENST00000678166.1:n.861-165del | ||
| ENST00000678312.1:n.982del | ||
| ENST00000678316.1:c.*68del | ENSP00000504112.1:n.*68del | |
| ENST00000678371.1:n.1003del | ||
| ENST00000678404.1:c.645del | ENSP00000503944.1:p.Phe215LeufsTer14 | |
| ENST00000678419.1:c.645del | ENSP00000504085.1:p.Phe215LeufsTer14 | |
| ENST00000678433.1:n.1005del | ||
| ENST00000678467.1:c.645del | ENSP00000504072.1:p.Phe215LeufsTer14 | |
| ENST00000678569.1:c.645del | ENSP00000504261.1:p.Phe215LeufsTer14 | |
| ENST00000678961.1:n.828del | ||
| ENST00000679002.1:n.824del | ||
| ENST00000679012.1:c.201del | ENSP00000504446.1:p.Phe67LeufsTer14 | |
| ENST00000679070.1:c.*68del | ENSP00000503759.1:n.*68del | |
| ENST00000679130.1:c.645del | ENSP00000504845.1:p.Phe215LeufsTer14 | |
| ENST00000679315.1:c.*475del | ENSP00000503065.1:n.*475del | |
| ENST00000243583.10:c.522del | ENSP00000243583.5:p.Phe174LeufsTer14 | |
| ENST00000324464.7:c.645del | ENSP00000315118.3:p.Phe215LeufsTer14 | |
| ENST00000595254.5:c.318del | ENSP00000470894.1:p.Phe106LeufsTer14 | |
| ENST00000596455.5:n.765del | ||
| ENST00000599643.5:c.336-165del | ENSP00000471192.1:n.336-165del | |
| ENST00000601304.5:c.*419del | ENSP00000472519.1:n.*419del | |
| ENST00000601967.5:c.645del | ENSP00000470916.1:p.Phe215LeufsTer14 | |
| NM_001142555.2:c.522del | NP_001136027.1:p.Phe174LeufsTer14 | |
| NM_024876.3:c.645del | NP_079152.3:p.Phe215LeufsTer14 | |
| XM_005259270.3:c.807del | XP_005259327.2:p.Phe269LeufsTer14 | |
| XM_005259271.3:c.645del | XP_005259328.1:p.Phe215LeufsTer14 | |
| XM_005259272.3:c.645del | XP_005259329.1:p.Phe215LeufsTer14 | |
| XM_005259273.3:c.645del | XP_005259330.1:p.Phe215LeufsTer14 | |
| XM_006723392.2:c.645del | XP_006723455.1:p.Phe215LeufsTer14 | |
| XM_006723393.2:c.645del | XP_006723456.1:p.Phe215LeufsTer14 | |
| XM_011527334.1:c.645del | XP_011525636.1:p.Phe215LeufsTer14 | |
| XM_011527335.1:c.577-165del | XP_011525637.1:n.577-165del | |
| XM_011527336.1:c.675del | XP_011525638.1:p.Phe225LeufsTer14 | |
| XM_011527337.1:c.645del | XP_011525639.1:p.Phe215LeufsTer14 | |
| XM_011527338.1:c.645del | XP_011525640.1:p.Phe215LeufsTer14 | |
| NM_024876.4:c.645del MANE Select | NP_079152.3:p.Phe215LeufsTer14 | |
| NM_001142555.3:c.522del | NP_001136027.1:p.Phe174LeufsTer14 |