Linked Data
dbSNP Id:
rs1555780440
gnomAD v2:
19-40791192-C-CCGGCAGCGGCAGCGGCGG
gnomAD v3:
19-40285285-C-CCGGCAGCGGCAGCGGCGG
gnomAD v4:
19-40285285-C-CCGGCAGCGGCAGCGGCGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285290_40285307dup , CM000681.2:g.40285290_40285307dup | GRCh38 |
| NC_000019.9:g.40791197_40791214dup , CM000681.1:g.40791197_40791214dup | GRCh37 |
| NC_000019.8:g.45483037_45483054dup | NCBI36 |
| NG_012038.2:g.5056_5073dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392038.7:c.-207_-190dup MANE Select | ENSP00000375892.2:n.-207_-190dup | |
| ENST00000391844.8:c.-253_-236dup | ENSP00000375719.4:n.-253_-236dup | |
| ENST00000392038.6:c.-207_-190dup | ENSP00000375892.2:n.-207_-190dup | |
| ENST00000424901.5:c.-207_-190dup | ENSP00000399532.2:n.-207_-190dup | |
| ENST00000578123.5:c.-85+145_-85+162dup | ENSP00000462022.1:n.-85+145_-85+162dup | |
| ENST00000579047.5:c.-263_-246dup | ENSP00000471369.1:n.-263_-246dup | |
| ENST00000584288.5:c.-346_-329dup | ENSP00000462469.1:n.-346_-329dup | |
| NM_001243027.2:c.-356_-339dup | NP_001229956.1:n.-356_-339dup | |
| NM_001243028.2:c.-263_-246dup | NP_001229957.1:n.-263_-246dup | |
| NM_001626.5:c.-207_-190dup | NP_001617.1:n.-207_-190dup | |
| XM_011526620.1:c.-85+145_-85+162dup | XP_011524922.1:n.-85+145_-85+162dup | |
| XM_011526622.1:c.-207_-190dup | XP_011524924.1:n.-207_-190dup | |
| XM_011526622.2:c.-207_-190dup | XP_011524924.1:n.-207_-190dup | |
| XM_024451417.1:c.-207_-190dup | XP_024307185.1:n.-207_-190dup | |
| NM_001626.6:c.-207_-190dup MANE Select | NP_001617.1:n.-207_-190dup | |
| NM_001243027.3:c.-356_-339dup | NP_001229956.1:n.-356_-339dup | |
| NM_001243028.3:c.-263_-246dup | NP_001229957.1:n.-263_-246dup |