Linked Data
dbSNP Id:
rs1018496392
gnomAD v2:
22-42524009-C-CAG
gnomAD v3:
22-42128007-C-CAG
gnomAD v4:
22-42128007-C-CAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128007_42128008insAG , CM000684.2:g.42128007_42128008insAG | GRCh38 |
| NC_000022.10:g.42524009_42524010insAG , CM000684.1:g.42524009_42524010insAG | GRCh37 |
| NC_000022.9:g.40853953_40853954insAG | NCBI36 |
| NG_008376.3:g.6984_6985insCT | |
| NG_008376.4:g.7803_7804insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.691-74_691-73insCT | ENSP00000353241.6:n.691-74_691-73insCT | |
| ENST00000645361.2:c.844-25_844-24insCT MANE Select | ENSP00000496150.1:n.844-25_844-24insCT | |
| ENST00000359033.4:c.691-25_691-24insCT | ENSP00000351927.4:n.691-25_691-24insCT | |
| ENST00000360124.9:c.511-74_511-73insCT | ENSP00000353241.5:n.511-74_511-73insCT | |
| ENST00000360608.9:c.844-25_844-24insCT | ENSP00000353820.5:n.844-25_844-24insCT | |
| ENST00000389970.7:c.778-25_778-24insCT | ENSP00000374620.4:n.778-25_778-24insCT | |
| ENST00000488442.1:n.1568-25_1568-24insCT | ||
| NM_000106.5:c.844-25_844-24insCT | NP_000097.3:n.844-25_844-24insCT | |
| NM_001025161.2:c.691-25_691-24insCT | NP_001020332.2:n.691-25_691-24insCT | |
| XM_011529966.1:c.844-25_844-24insCT | XP_011528268.1:n.844-25_844-24insCT | |
| XM_011529967.1:c.844-25_844-24insCT | XP_011528269.1:n.844-25_844-24insCT | |
| XM_011529968.1:c.844-25_844-24insCT | XP_011528270.1:n.844-25_844-24insCT | |
| XM_011529969.1:c.700-25_700-24insCT | XP_011528271.1:n.700-25_700-24insCT | |
| XM_011529970.1:c.691-25_691-24insCT | XP_011528272.1:n.691-25_691-24insCT | |
| XM_011529971.1:c.700-25_700-24insCT | XP_011528273.1:n.700-25_700-24insCT | |
| XM_011529972.1:c.843+166_843+167insCT | XP_011528274.1:n.843+166_843+167insCT | |
| NM_000106.6:c.844-25_844-24insCT MANE Select | NP_000097.3:n.844-25_844-24insCT | |
| NM_001025161.3:c.691-25_691-24insCT | NP_001020332.2:n.691-25_691-24insCT |