Linked Data
dbSNP Id:
rs1844145519
gnomAD v3:
10-102835218-TCCAGCC-T
gnomAD v4:
10-102835218-TCCAGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835229_102835234del , CM000672.2:g.102835229_102835234del | GRCh38 |
| NC_000010.10:g.104594986_104594991del , CM000672.1:g.104594986_104594991del | GRCh37 |
| NC_000010.9:g.104584976_104584981del | NCBI36 |
| NG_007955.1:g.7310_7315del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.436+30_436+35del MANE Select | ENSP00000358903.3:n.436+30_436+35del | |
| ENST00000638190.1:c.436+30_436+35del | ENSP00000492539.1:n.436+30_436+35del | |
| ENST00000638272.1:c.297+1841_297+1846del | ENSP00000491508.1:n.297+1841_297+1846del | |
| ENST00000638971.1:c.436+30_436+35del | ENSP00000492313.1:n.436+30_436+35del | |
| ENST00000639393.1:c.436+30_436+35del | ENSP00000492651.1:n.436+30_436+35del | |
| ENST00000640633.1:n.198+30_198+35del | ||
| ENST00000369887.3:c.436+30_436+35del | ENSP00000358903.3:n.436+30_436+35del | |
| ENST00000489268.1:n.690+30_690+35del | ||
| NM_000102.3:c.436+30_436+35del | NP_000093.1:n.436+30_436+35del | |
| NM_000102.4:c.436+30_436+35del MANE Select | NP_000093.1:n.436+30_436+35del |