Linked Data
dbSNP Id:
rs1384003757
gnomAD v3:
5-14871329-TGGGGCGC-T
gnomAD v4:
5-14871329-TGGGGCGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871335_14871341del , CM000667.2:g.14871335_14871341del | GRCh38 |
| NC_000005.9:g.14871444_14871450del , CM000667.1:g.14871444_14871450del | GRCh37 |
| NC_000005.8:g.14924444_14924450del | NCBI36 |
| NG_008273.1:g.5443_5449del | |
| NG_008273.2:g.5450_5456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.96+16_96+22del MANE Select | ENSP00000284268.6:n.96+16_96+22del | |
| ENST00000284268.6:c.96+16_96+22del | ENSP00000284268.6:n.96+16_96+22del | |
| ENST00000505140.1:c.112_118del | ENSP00000426332.1:p.Ala38ThrfsTer? | |
| ENST00000513115.1:n.121+16_121+22del | ||
| NM_054027.4:c.96+16_96+22del | NP_473368.1:n.96+16_96+22del | |
| XM_011514067.1:c.96+16_96+22del | XP_011512369.1:n.96+16_96+22del | |
| NM_054027.5:c.96+16_96+22del | NP_473368.1:n.96+16_96+22del | |
| NM_054027.6:c.96+16_96+22del MANE Select | NP_473368.1:n.96+16_96+22del |