Linked Data
dbSNP Id:
rs1254825556
gnomAD v2:
4-6293726-T-TGA
gnomAD v3:
4-6291999-T-TGA
gnomAD v4:
4-6291999-T-TGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6292001_6292002dup , CM000666.2:g.6292001_6292002dup | GRCh38 |
| NC_000004.11:g.6293728_6293729dup , CM000666.1:g.6293728_6293729dup | GRCh37 |
| NC_000004.10:g.6344629_6344630dup | NCBI36 |
| NG_011700.1:g.27152_27153dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.712+4_712+5dup | ENSP00000507852.1:n.712+4_712+5dup | |
| ENST00000683395.1:c.689+4_689+5dup | ||
| ENST00000684087.1:c.712+4_712+5dup | ENSP00000506978.1:n.712+4_712+5dup | |
| ENST00000506362.2:c.463+4_463+5dup | ENSP00000424103.2:n.463+4_463+5dup | |
| ENST00000673642.1:c.511+4_511+5dup | ENSP00000501242.1:n.511+4_511+5dup | |
| ENST00000673991.1:c.712+4_712+5dup | ENSP00000501033.1:n.712+4_712+5dup | |
| ENST00000226760.5:c.712+4_712+5dup MANE Select | ENSP00000226760.1:n.712+4_712+5dup | |
| ENST00000503569.5:c.712+4_712+5dup | ENSP00000423337.1:n.712+4_712+5dup | |
| ENST00000506362.1:c.309+4_309+5dup | ||
| ENST00000507765.1:n.897+4_897+5dup | ||
| NM_001145853.1:c.712+4_712+5dup | NP_001139325.1:n.712+4_712+5dup | |
| NM_006005.3:c.712+4_712+5dup MANE Select | NP_005996.2:n.712+4_712+5dup | |
| XM_017008586.1:c.721+4_721+5dup | XP_016864075.1:n.721+4_721+5dup |