Linked Data
ClinVar Variation Id:
161496
ClinVar RCV Id:
RCV000149030
dbSNP Id:
rs193920834
MyVariant Identifiers:
chr19:g.57988667_57988668insGCC (hg19)
chr19:g.57477299_57477300insGCC (hg38)
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57477299_57477300insGCC , CM000681.2:g.57477299_57477300insGCC | GRCh38 |
| NC_000019.9:g.57988667_57988668insGCC , CM000681.1:g.57988667_57988668insGCC | GRCh37 |
| NC_000019.8:g.62680479_62680480insGCC | NCBI36 |
| NG_051489.1:g.5271_5272insGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356584.8:c.10_11insGGC MANE Select | ENSP00000348992.3:p.Ala4delinsGlyPro | |
| ENST00000343280.8:c.10_11insGGC | ENSP00000341165.4:p.Ala4delinsGlyPro | |
| ENST00000356584.7:c.10_11insGGC | ENSP00000348992.3:p.Ala4delinsGlyPro | |
| ENST00000415705.3:n.237_238insGGC | ||
| ENST00000425074.3:c.10_11insGGC | ENSP00000415214.2:p.Ala4delinsGlyPro | |
| ENST00000427512.6:c.-38_-37insGGC | ENSP00000395967.2:n.-38_-37insGGC | |
| ENST00000450712.2:c.10_11insGGC | ENSP00000400754.2:p.Ala4delinsGlyPro | |
| ENST00000596831.1:c.10_11insGGC | ENSP00000470969.1:p.Ala4delinsGlyPro | |
| ENST00000600175.5:c.10_11insGGC | ENSP00000471079.1:p.Ala4delinsGlyPro | |
| ENST00000601768.1:c.10_11insGGC | ENSP00000471647.1:p.Ala4delinsGlyPro | |
| ENST00000610548.2:c.-30_-29insGGC | ENSP00000477730.1:n.-30_-29insGGC | |
| ENST00000615214.3:c.10_11insGGC | ENSP00000480278.1:p.Ala4delinsGlyPro | |
| NM_001024596.2:c.10_11insGGC | NP_001019767.1:p.Ala4delinsGlyPro | |
| NM_001144068.1:c.10_11insGGC | NP_001137540.1:p.Ala4delinsGlyPro | |
| XM_005258943.3:c.-77_-76insGGC | XP_005259000.1:n.-77_-76insGGC | |
| XM_005258944.2:c.-38_-37insGGC | XP_005259001.1:n.-38_-37insGGC | |
| XM_011526980.1:c.-410_-409insGGC | XP_011525282.1:n.-410_-409insGGC | |
| NM_001330613.1:c.-77_-76insGGC | NP_001317542.1:n.-77_-76insGGC | |
| XM_005258944.4:c.-38_-37insGGC | XP_005259001.1:n.-38_-37insGGC | |
| XM_011526980.3:c.-410_-409insGGC | XP_011525282.1:n.-410_-409insGGC | |
| XM_017026813.2:c.-410_-409insGGC | XP_016882302.1:n.-410_-409insGGC | |
| NM_001024596.3:c.10_11insGGC | NP_001019767.1:p.Ala4delinsGlyPro | |
| NM_001144068.2:c.10_11insGGC MANE Select | NP_001137540.1:p.Ala4delinsGlyPro | |
| NM_001330613.2:c.-77_-76insGGC | NP_001317542.1:n.-77_-76insGGC |