Linked Data
dbSNP Id:
rs1821220855
gnomAD v3:
9-32550619-GCCGCTCGGGGGCCCTGGCCCT-G
gnomAD v4:
9-32550619-GCCGCTCGGGGGCCCTGGCCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550620_32550640del , CM000671.2:g.32550620_32550640del | GRCh38 |
| NC_000009.11:g.32550618_32550638del , CM000671.1:g.32550618_32550638del | GRCh37 |
| NC_000009.10:g.32540618_32540638del | NCBI36 |
| NG_017050.1:g.6985_7005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.198+134_198+154del MANE Select | ENSP00000353735.2:n.198+134_198+154del | |
| ENST00000680198.1:c.198+134_198+154del | ENSP00000505143.1:n.198+134_198+154del | |
| ENST00000681750.1:c.-45+134_-45+154del | ENSP00000506413.1:n.-45+134_-45+154del | |
| ENST00000360538.6:c.198+134_198+154del | ENSP00000353735.2:n.198+134_198+154del | |
| ENST00000379858.1:c.3+1794_3+1814del | ENSP00000369187.1:n.3+1794_3+1814del | |
| NM_001195622.1:c.3+1794_3+1814del | NP_001182551.1:n.3+1794_3+1814del | |
| NM_005802.4:c.198+134_198+154del | NP_005793.2:n.198+134_198+154del | |
| NM_005802.5:c.198+134_198+154del MANE Select | NP_005793.2:n.198+134_198+154del | |
| NM_001195622.2:c.3+1794_3+1814del | NP_001182551.1:n.3+1794_3+1814del |