Linked Data
ClinVar Variation Id:
425197
ClinVar RCV Id:
RCV000487978
dbSNP Id:
rs1064797250
MyVariant Identifiers:
chr19:g.54124542_54124543insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54124544dup , CM000681.2:g.54124544dup | GRCh38 |
| NC_000019.8:g.59319735dup | NCBI36 |
| NG_009759.1:g.14134dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321030.9:c.743dup MANE Select | ENSP00000324122.4:p.Asn248LysfsTer31 | |
| ENST00000321030.8:c.743dup | ENSP00000324122.4:p.Asn248LysfsTer31 | |
| ENST00000391755.1:c.743dup | ENSP00000375635.1:p.Asn248LysfsTer31 | |
| ENST00000419967.5:c.743dup | ENSP00000405166.2:p.Asn248LysfsTer31 | |
| ENST00000445124.5:c.743dup | ENSP00000408980.1:p.Asn248LysfsTer? | |
| ENST00000445811.5:c.743dup | ENSP00000395894.1:p.Asn248LysfsTer31 | |
| ENST00000447810.5:c.743dup | ENSP00000395089.1:p.Asn248LysfsTer? | |
| ENST00000466404.5:n.613dup | ||
| ENST00000498612.1:n.526dup | ||
| NM_015629.3:c.743dup | NP_056444.3:p.Asn248LysfsTer31 | |
| XM_006723137.2:c.743dup | XP_006723200.1:p.Asn248LysfsTer31 | |
| XR_935789.1:n.792dup | ||
| XM_006723137.4:c.743dup | XP_006723200.1:p.Asn248LysfsTer31 | |
| XR_002958293.1:n.873dup | ||
| XR_935789.3:n.804dup | ||
| NM_015629.4:c.743dup MANE Select | NP_056444.3:p.Asn248LysfsTer31 |