Linked Data
ClinVar Variation Id:
96444
dbSNP Id:
rs398124502
ExAC:
6:51612724 AT / A
gnomAD v2:
6-51612724-AT-A
gnomAD v3:
6-51747926-AT-A
gnomAD v4:
6-51747926-AT-A
MyVariant Identifiers:
chr6:g.51612725del (hg19)
chr6:g.51612725delT (hg19)
chr6:g.51747927del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51747927del , CM000668.2:g.51747927del | GRCh38 |
| NC_000006.11:g.51612725del , CM000668.1:g.51612725del | GRCh37 |
| NC_000006.10:g.51720684del | NCBI36 |
| NG_008753.1:g.344699del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.9689del MANE Select | ENSP00000360158.3:p.Asp3230ValfsTer? | |
| ENST00000340994.4:c.9689del | ENSP00000341097.4:p.Asp3230ValfsTer? | |
| ENST00000371117.7:c.9689del | ENSP00000360158.3:p.Asp3230ValfsTer? | |
| NM_138694.3:c.9689del | NP_619639.3:p.Asp3230ValfsTer? | |
| NM_170724.2:c.9689del | NP_733842.2:p.Asp3230ValfsTer? | |
| XM_011514679.1:c.9689del | XP_011512981.1:p.Asp3230ValfsTer? | |
| XM_011514680.1:c.9689del | XP_011512982.1:p.Asp3230ValfsTer? | |
| XM_011514681.1:c.9560del | XP_011512983.1:p.Asp3187ValfsTer? | |
| XM_011514682.1:c.9551del | XP_011512984.1:p.Asp3184ValfsTer? | |
| XM_011514683.1:c.9047del | XP_011512985.1:p.Asp3016ValfsTer? | |
| XM_011514684.1:c.8978del | XP_011512986.1:p.Asp2993ValfsTer? | |
| XM_011514685.1:c.9689del | XP_011512987.1:p.Asp3230ValfsTer? | |
| XM_011514686.1:c.9689del | XP_011512988.1:p.Asp3230ValfsTer? | |
| XM_011514687.1:c.9689del | XP_011512989.1:p.Asp3230ValfsTer? | |
| XM_011514688.1:c.9689del | XP_011512990.1:p.Asp3230ValfsTer? | |
| XM_011514690.1:c.3764del | XP_011512992.1:p.Asp1255ValfsTer? | |
| XM_011514691.1:c.3764del | XP_011512993.1:p.Asp1255ValfsTer? | |
| XM_011514680.3:c.9689del | XP_011512982.1:p.Asp3230ValfsTer? | |
| XM_011514682.3:c.9551del | XP_011512984.1:p.Asp3184ValfsTer? | |
| XM_011514683.3:c.9047del | XP_011512985.1:p.Asp3016ValfsTer? | |
| XM_011514684.3:c.8978del | XP_011512986.1:p.Asp2993ValfsTer? | |
| XM_011514686.2:c.9689del | XP_011512988.1:p.Asp3230ValfsTer? | |
| XM_011514688.2:c.9689del | XP_011512990.1:p.Asp3230ValfsTer? | |
| XM_011514690.3:c.3764del | XP_011512992.1:p.Asp1255ValfsTer? | |
| XM_011514691.3:c.3764del | XP_011512993.1:p.Asp1255ValfsTer? | |
| XM_017010944.2:c.9689del | XP_016866433.1:p.Asp3230ValfsTer? | |
| XM_017010945.2:c.9614del | XP_016866434.1:p.Asp3205ValfsTer? | |
| XM_017010946.2:c.9494del | XP_016866435.1:p.Asp3165ValfsTer? | |
| XM_017010947.2:c.9425del | XP_016866436.1:p.Asp3142ValfsTer? | |
| XM_017010948.2:c.8978del | XP_016866437.1:p.Asp2993ValfsTer? | |
| XM_017010949.2:c.7829del | XP_016866438.1:p.Asp2610ValfsTer? | |
| XM_017010950.1:c.9689del | XP_016866439.1:p.Asp3230ValfsTer? | |
| XR_001743469.1:n.9965del | ||
| NM_138694.4:c.9689del MANE Select | NP_619639.3:p.Asp3230ValfsTer? | |
| NM_170724.3:c.9689del | NP_733842.2:p.Asp3230ValfsTer? |