Linked Data
ClinVar Variation Id:
433185
ClinVar RCV Id:
RCV000497671
dbSNP Id:
rs1553895368
gnomAD v4:
4-56017774-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56017775_56017776del , CM000666.2:g.56017775_56017776del | GRCh38 |
| NC_000004.11:g.56883941_56883942del , CM000666.1:g.56883941_56883942del | GRCh37 |
| NC_000004.10:g.56578698_56578699del | NCBI36 |
| NG_032806.1:g.73968_73969del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706801.1:n.995_996del | ||
| ENST00000257287.5:c.2930_2931del MANE Select | ENSP00000257287.3:p.Leu977GlnfsTer6 | |
| ENST00000257287.4:c.2930_2931del | ENSP00000257287.3:p.Leu977GlnfsTer6 | |
| ENST00000506202.1:n.2880_2881del | ||
| NM_025009.4:c.2930_2931del | NP_079285.2:p.Leu977GlnfsTer6 | |
| XM_005265788.2:c.1859_1860del | XP_005265845.1:p.Leu620GlnfsTer6 | |
| XM_006714055.2:c.2897_2898del | XP_006714118.1:p.Leu966GlnfsTer6 | |
| XM_011534412.1:c.1400_1401del | XP_011532714.1:p.Leu467GlnfsTer6 | |
| XM_005265788.4:c.1859_1860del | XP_005265845.1:p.Leu620GlnfsTer6 | |
| XM_006714055.3:c.2897_2898del | XP_006714118.1:p.Leu966GlnfsTer6 | |
| XM_011534412.2:c.1400_1401del | XP_011532714.1:p.Leu467GlnfsTer6 | |
| NM_025009.5:c.2930_2931del MANE Select | NP_079285.2:p.Leu977GlnfsTer6 |