Linked Data
dbSNP Id:
rs2067118194
gnomAD v3:
11-61830293-ATGAATTTGGTC-A
gnomAD v4:
11-61830293-ATGAATTTGGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61830297_61830307del , CM000673.2:g.61830297_61830307del | GRCh38 |
| NC_000011.9:g.61597769_61597779del , CM000673.1:g.61597769_61597779del | GRCh37 |
| NC_000011.8:g.61354345_61354355del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.207+1700_207+1710del MANE Select | ENSP00000278840.4:n.207+1700_207+1710del | |
| ENST00000257261.10:c.142-7481_142-7471del | ENSP00000257261.6:n.142-7481_142-7471del | |
| ENST00000278840.8:c.207+1700_207+1710del | ENSP00000278840.4:n.207+1700_207+1710del | |
| ENST00000517312.5:c.-160+1700_-160+1710del | ENSP00000430225.1:n.-160+1700_-160+1710del | |
| ENST00000518606.5:c.-160+2866_-160+2876del | ENSP00000430054.1:n.-160+2866_-160+2876del | |
| ENST00000521849.5:c.207+1700_207+1710del | ENSP00000431091.1:n.207+1700_207+1710del | |
| ENST00000522056.5:c.115-7481_115-7471del | ENSP00000429500.1:n.115-7481_115-7471del | |
| NM_001281501.1:c.142-7481_142-7471del | NP_001268430.1:n.142-7481_142-7471del | |
| NM_001281502.1:c.115-7481_115-7471del | NP_001268431.1:n.115-7481_115-7471del | |
| NM_004265.3:c.207+1700_207+1710del | NP_004256.1:n.207+1700_207+1710del | |
| XM_011545395.1:c.207+1700_207+1710del | XP_011543697.1:n.207+1700_207+1710del | |
| NM_004265.4:c.207+1700_207+1710del MANE Select | NP_004256.1:n.207+1700_207+1710del |