Linked Data
dbSNP Id:
rs1194483295
gnomAD v2:
19-46270154-TGGAGGCCTCGCCCAGGGCCAGGCC-T
gnomAD v4:
19-45766896-TGGAGGCCTCGCCCAGGGCCAGGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766898_45766921del , CM000681.2:g.45766898_45766921del | GRCh38 |
| NC_000019.9:g.46270156_46270179del , CM000681.1:g.46270156_46270179del | GRCh37 |
| NC_000019.8:g.50961996_50962019del | NCBI36 |
| NG_012745.1:g.7320_7343del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1039_1062del MANE Select | ENSP00000316842.4:p.Gly347_Ser354del | |
| ENST00000317578.6:c.1039_1062del | ENSP00000316842.4:p.Gly347_Ser354del | |
| ENST00000560160.1:c.587-809_587-786del | ||
| ENST00000560168.1:c.*227_*250del | ENSP00000453189.2:n.*227_*250del | |
| ENST00000622857.1:c.16-958_16-935del | ENSP00000481365.1:n.16-958_16-935del | |
| NM_175875.4:c.1039_1062del | NP_787071.2:p.Gly347_Ser354del | |
| NM_175875.5:c.1039_1062del MANE Select | NP_787071.3:p.Gly347_Ser354del |