Linked Data
dbSNP Id:
rs1409674175
gnomAD v2:
17-39780389-G-GGGCC
gnomAD v3:
17-41624137-G-GGGCC
gnomAD v4:
17-41624137-G-GGGCC
MyVariant Identifiers:
chr17:g.39780389_39780390insGGCC (hg19)
chr17:g.41624137_41624138insGGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624138_41624141dup , CM000679.2:g.41624138_41624141dup | GRCh38 |
| NC_000017.10:g.39780390_39780393dup , CM000679.1:g.39780390_39780393dup | GRCh37 |
| NC_000017.9:g.37033916_37033919dup | NCBI36 |
| NG_008625.1:g.5490_5493dup | |
| NG_009090.2:g.167572_167575dup , LRG_401:g.167572_167575dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.369_372dup MANE Select | ENSP00000308452.8:p.Pro125GlyfsTer7 | |
| ENST00000311208.12:c.369_372dup | ENSP00000308452.8:p.Pro125GlyfsTer7 | |
| ENST00000463128.5:c.-247_-244dup | ENSP00000468672.1:n.-247_-244dup | |
| ENST00000491673.1:n.435_438dup | ||
| ENST00000493253.5:n.156_159dup | ||
| ENST00000540235.5:c.120_123dup | ENSP00000441751.2:p.Pro42GlyfsTer7 | |
| ENST00000577817.3:c.324_327dup | ENSP00000467418.1:p.Pro110GlyfsTer7 | |
| NM_000422.2:c.369_372dup | NP_000413.1:p.Pro125GlyfsTer7 | |
| NM_000422.3:c.369_372dup MANE Select | NP_000413.1:p.Pro125GlyfsTer7 |