Linked Data
dbSNP Id:
rs750485697
gnomAD v2:
10-105812838-TCCCATGGGGCCTTCTCGCCCTCTCTGG-T
gnomAD v4:
10-104053080-TCCCATGGGGCCTTCTCGCCCTCTCTGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104053095_104053121del , CM000672.2:g.104053095_104053121del | GRCh38 |
| NC_000010.10:g.105812853_105812879del , CM000672.1:g.105812853_105812879del | GRCh37 |
| NC_000010.9:g.105802843_105802869del | NCBI36 |
| NG_007069.1:g.37774_37800del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.1863_1889del | ENSP00000358748.3:p.Gln622_Gly630del | |
| ENST00000648076.2:c.1863_1889del MANE Select | ENSP00000497653.1:p.Gln622_Gly630del | |
| ENST00000353479.9:c.1863_1889del | ENSP00000340937.5:p.Gln622_Gly630del | |
| ENST00000369733.7:c.1863_1889del | ENSP00000358748.3:p.Gln622_Gly630del | |
| NM_000494.3:c.1863_1889del | NP_000485.3:p.Gln622_Gly630del | |
| NM_000494.4:c.1863_1889del MANE Select | NP_000485.3:p.Gln622_Gly630del |