Linked Data
dbSNP Id:
rs775901437
gnomAD v2:
19-4099210-CGCCCGGGGG-C
gnomAD v3:
19-4099212-CGCCCGGGGG-C
gnomAD v4:
19-4099212-CGCCCGGGGG-C
MyVariant Identifiers:
chr19:g.4099211_4099219del (hg19)
chr19:g.4099214_4099222del (hg38)
chr19:g.4099213_4099221del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099216_4099224del , CM000681.2:g.4099216_4099224del | GRCh38 |
| NC_000019.9:g.4099214_4099222del , CM000681.1:g.4099214_4099222del | GRCh37 |
| NC_000019.8:g.4050214_4050222del | NCBI36 |
| NG_007996.1:g.29908_29916del , LRG_750:g.29908_29916del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1338_1346del | ||
| ENST00000687128.1:n.1338_1346del | ||
| ENST00000688002.1:n.1193_1201del | ||
| ENST00000689792.1:n.803_811del | ||
| ENST00000262948.10:c.899_907del MANE Select | ENSP00000262948.4:p.Pro300_Gly302del | |
| ENST00000262948.9:c.899_907del | ENSP00000262948.3:p.Pro300_Gly302del | |
| ENST00000394867.8:c.608_616del | ENSP00000378336.1:p.Pro203_Gly205del | |
| ENST00000593364.5:n.846_854del | ||
| ENST00000595715.1:n.714_722del | ||
| ENST00000597263.5:n.169+1798_169+1806del | ||
| ENST00000599021.1:c.29+1798_29+1806del | ||
| ENST00000600584.5:n.1459_1467del | ||
| ENST00000601786.5:n.1200_1208del | ||
| NM_030662.3:c.899_907del , LRG_750t1:c.899_907del | NP_109587.1:p.Pro300_Gly302del | |
| XM_006722799.2:c.705+1798_705+1806del | XP_006722862.1:n.705+1798_705+1806del | |
| XM_011528133.1:c.329_337del | XP_011526435.1:p.Pro110_Gly112del | |
| XM_017026989.1:c.899_907del | XP_016882478.1:p.Pro300_Gly302del | |
| XM_017026990.1:c.705+1798_705+1806del | XP_016882479.1:n.705+1798_705+1806del | |
| NM_030662.4:c.899_907del MANE Select | NP_109587.1:p.Pro300_Gly302del |