Linked Data
dbSNP Id:
rs1357027771
gnomAD v2:
11-69462742-CCT-C
gnomAD v3:
11-69647974-CCT-C
gnomAD v4:
11-69647974-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69647980_69647981del , CM000673.2:g.69647980_69647981del | GRCh38 |
| NC_000011.9:g.69462748_69462749del , CM000673.1:g.69462748_69462749del | GRCh37 |
| NC_000011.8:g.69171929_69171930del | NCBI36 |
| NG_007375.1:g.11876_11877del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.575-14_575-13del MANE Select | ENSP00000227507.2:n.575-14_575-13del | |
| ENST00000227507.2:c.575-14_575-13del | ENSP00000227507.2:n.575-14_575-13del | |
| ENST00000536559.1:c.199-14_199-13del | ENSP00000438482.1:n.199-14_199-13del | |
| ENST00000542367.1:n.24_25del | ||
| ENST00000545484.1:n.281-14_281-13del | ||
| NM_053056.2:c.575-14_575-13del | NP_444284.1:n.575-14_575-13del | |
| XM_006718653.2:c.599-14_599-13del | XP_006718716.1:n.599-14_599-13del | |
| NM_053056.3:c.575-14_575-13del MANE Select | NP_444284.1:n.575-14_575-13del |