Linked Data
dbSNP Id:
rs1280144873
gnomAD v2:
14-51378342-TCTATC-T
gnomAD v3:
14-50911624-TCTATC-T
gnomAD v4:
14-50911624-TCTATC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50911628_50911632del , CM000676.2:g.50911628_50911632del | GRCh38 |
| NC_000014.8:g.51378346_51378350del , CM000676.1:g.51378346_51378350del | GRCh37 |
| NC_000014.7:g.50448096_50448100del | NCBI36 |
| NG_012796.1:g.37902_37906del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1969+101_1969+105del MANE Select | ENSP00000216392.7:n.1969+101_1969+105del | |
| ENST00000216392.7:c.1969+101_1969+105del | ENSP00000216392.7:n.1969+101_1969+105del | |
| ENST00000532107.2:n.142+101_142+105del | ||
| ENST00000532462.5:c.1969+101_1969+105del | ENSP00000431657.1:n.1969+101_1969+105del | |
| ENST00000544180.6:c.1867+101_1867+105del | ENSP00000443787.1:n.1867+101_1867+105del | |
| NM_001163940.1:c.1867+101_1867+105del | NP_001157412.1:n.1867+101_1867+105del | |
| NM_002863.4:c.1969+101_1969+105del | NP_002854.3:n.1969+101_1969+105del | |
| NM_002863.5:c.1969+101_1969+105del MANE Select | NP_002854.3:n.1969+101_1969+105del | |
| NM_001163940.2:c.1867+101_1867+105del | NP_001157412.1:n.1867+101_1867+105del |