Linked Data
dbSNP Id:
rs545979416
ExAC:
19:7590085 GGCCA / G
gnomAD v2:
19-7590085-GGCCA-G
gnomAD v3:
19-7525199-GGCCA-G
gnomAD v4:
19-7525199-GGCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525200_7525203del , CM000681.2:g.7525200_7525203del | GRCh38 |
| NC_000019.9:g.7590086_7590089del , CM000681.1:g.7590086_7590089del | GRCh37 |
| NC_000019.8:g.7496086_7496089del | NCBI36 |
| NG_015806.1:g.7591_7594del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.237+34_237+37del MANE Select | ENSP00000264079.5:n.237+34_237+37del | |
| ENST00000264079.10:c.237+34_237+37del | ENSP00000264079.5:n.237+34_237+37del | |
| ENST00000394321.9:n.317+34_317+37del | ||
| ENST00000596390.1:n.387_390del | ||
| ENST00000601003.1:c.237+34_237+37del | ENSP00000469074.1:n.237+34_237+37del | |
| NM_020533.2:c.237+34_237+37del | NP_065394.1:n.237+34_237+37del | |
| NM_020533.3:c.237+34_237+37del MANE Select | NP_065394.1:n.237+34_237+37del |