Linked Data
dbSNP Id:
rs1439147847
gnomAD v4:
19-55015741-CCAAA-C
MyVariant Identifiers:
chr19:g.55015742_55015745del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55015746_55015749del , CM000681.2:g.55015746_55015749del | GRCh38 |
| NC_000019.8:g.60218926_60218929del | NCBI36 |
| NG_031963.2:g.27520_27523del , LRG_560:g.27520_27523del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310373.7:c.725-12_725-9del (GP6) | ENSP00000308782.3:n.725-12_725-9del | |
| ENST00000333884.2:c.671-12_671-9del (GP6) | ENSP00000334552.2:n.671-12_671-9del | |
| ENST00000417454.5:c.725-12_725-9del (GP6) MANE Select | ENSP00000394922.1:n.725-12_725-9del | |
| ENST00000465648.1:n.169-12_169-9del (GP6) | ||
| NM_001083899.2:c.725-12_725-9del , LRG_560t3:c.725-12_725-9del (GP6) | NP_001077368.2:n.725-12_725-9del | |
| NM_001256017.2:c.671-12_671-9del , LRG_560t2:c.671-12_671-9del (GP6) | NP_001242946.2:n.671-12_671-9del | |
| NM_016363.5:c.725-12_725-9del , LRG_560t1:c.725-12_725-9del (GP6) MANE Select | NP_057447.5:n.725-12_725-9del | |
| XR_001754012.2:n.312+9282_312+9285del (GP6-AS1) | ||
| XR_001754013.2:n.305+9282_305+9285del (GP6-AS1) |