Linked Data
dbSNP Id:
rs1475103077
gnomAD v2:
X-119760307-CTTCTGCATT-C
gnomAD v4:
X-120626452-CTTCTGCATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120626460_120626468del , CM000685.2:g.120626460_120626468del | GRCh38 |
| NC_000023.10:g.119760315_119760323del , CM000685.1:g.119760315_119760323del | GRCh37 |
| NC_000023.9:g.119644343_119644351del | NCBI36 |
| NG_016219.1:g.8690_8698del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304661.6:c.706_714del MANE Select | ENSP00000304364.5:p.Asn236_Glu238del | |
| ENST00000304661.5:c.706_714del | ENSP00000304364.5:p.Asn236_Glu238del | |
| ENST00000371313.2:c.706_714del | ENSP00000360363.2:p.Asn236_Glu238del | |
| NM_001011551.2:c.706_714del | NP_001011551.1:p.Asn236_Glu238del | |
| NM_152692.4:c.706_714del | NP_689905.1:p.Asn236_Glu238del | |
| NM_001011551.3:c.706_714del MANE Select | NP_001011551.1:p.Asn236_Glu238del | |
| NM_152692.5:c.706_714del | NP_689905.1:p.Asn236_Glu238del |