Linked Data
gnomAD v4:
14-74493504-GCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493505_74493507del , CM000676.2:g.74493505_74493507del | GRCh38 |
| NC_000014.8:g.74960208_74960210del , CM000676.1:g.74960208_74960210del | GRCh37 |
| NC_000014.7:g.74029961_74029963del | NCBI36 |
| NG_007117.1:g.4875_4877del | |
| NG_033074.1:g.4786_4788del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+63_-64+65del | ENSP00000450887.1:n.-64+63_-64+65del | |
| ENST00000555619.5:c.-233_-231del | ENSP00000451112.1:n.-233_-231del | |
| ENST00000556009.5:c.147+524_147+526del | ||
| NM_001363688.1:c.-233_-231del | NP_001350617.1:n.-233_-231del | |
| NM_006432.4:c.-233_-231del | NP_006423.1:n.-233_-231del |