Linked Data
ClinVar Variation Id:
557703
dbSNP Id:
rs1330793674
gnomAD v2:
19-41928908-GGCACCACA-G
gnomAD v4:
19-41423003-GGCACCACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41423010_41423017del , CM000681.2:g.41423010_41423017del | GRCh38 |
| NC_000019.9:g.41928915_41928922del , CM000681.1:g.41928915_41928922del | GRCh37 |
| NC_000019.8:g.46620755_46620762del | NCBI36 |
| NG_013004.1:g.30222_30229del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1008_1015del MANE Select | ENSP00000269980.2:p.His336GlnfsTer2 | |
| ENST00000269980.6:c.1008_1015del | ENSP00000269980.2:p.His336GlnfsTer2 | |
| ENST00000457836.6:c.1017_1024del | ENSP00000416000.2:p.His339GlnfsTer2 | |
| ENST00000540732.3:c.1110_1117del | ENSP00000443246.1:p.His370GlnfsTer2 | |
| ENST00000542943.5:c.921_928del | ENSP00000440345.1:p.His307GlnfsTer2 | |
| ENST00000595085.5:c.922+313_922+320del | ENSP00000471150.2:n.922+313_922+320del | |
| NM_000709.3:c.1008_1015del | NP_000700.1:p.His336GlnfsTer2 | |
| NM_001164783.1:c.1005_1012del | NP_001158255.1:p.His335GlnfsTer2 | |
| NM_000709.4:c.1008_1015del MANE Select | NP_000700.1:p.His336GlnfsTer2 | |
| NM_001164783.2:c.1005_1012del | NP_001158255.1:p.His335GlnfsTer2 |