Linked Data
dbSNP Id:
rs1948624594
gnomAD v3:
11-72224930-C-CGGGGCGGATGGCGCGGGGCGGCG
gnomAD v4:
11-72224930-C-CGGGGCGGATGGCGCGGGGCGGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72224938_72224960dup , CM000673.2:g.72224938_72224960dup | GRCh38 |
| NC_000011.9:g.71935982_71936004dup , CM000673.1:g.71935982_71936004dup | GRCh37 |
| NC_000011.8:g.71613630_71613652dup | NCBI36 |
| NG_023253.1:g.5101_5123dup | |
| NG_023253.2:g.5101_5123dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.-47_-25dup MANE Select | ENSP00000298229.2:n.-47_-25dup | |
| ENST00000298229.6:c.-47_-25dup | ENSP00000298229.2:n.-47_-25dup | |
| ENST00000540973.1:c.-47_-25dup | ENSP00000440904.1:n.-47_-25dup | |
| ENST00000543234.1:c.-47_-25dup | ENSP00000440512.1:n.-47_-25dup | |
| NM_001567.3:c.-47_-25dup | NP_001558.3:n.-47_-25dup | |
| XM_005273978.3:c.-47_-25dup | XP_005274035.1:n.-47_-25dup | |
| XM_005273979.3:c.-47_-25dup | XP_005274036.1:n.-47_-25dup | |
| XM_011544999.1:c.-47_-25dup | XP_011543301.1:n.-47_-25dup | |
| XM_011545000.1:c.-47_-25dup | XP_011543302.1:n.-47_-25dup | |
| XM_005273979.4:c.-47_-25dup | XP_005274036.1:n.-47_-25dup | |
| XM_011544999.2:c.-47_-25dup | XP_011543301.1:n.-47_-25dup | |
| XM_024448501.1:c.-47_-25dup | XP_024304269.1:n.-47_-25dup | |
| XM_024448502.1:c.-47_-25dup | XP_024304270.1:n.-47_-25dup | |
| XM_024448503.1:c.-168_-146dup | XP_024304271.1:n.-168_-146dup | |
| XM_024448504.1:c.-47_-25dup | XP_024304272.1:n.-47_-25dup | |
| XM_024448505.1:c.-47_-25dup | XP_024304273.1:n.-47_-25dup | |
| NM_001567.4:c.-47_-25dup MANE Select | NP_001558.3:n.-47_-25dup |