Linked Data
ClinVar Variation Id:
2029
ClinVar RCV Id:
RCV000002107
dbSNP Id:
rs786200873
PubMed:
PMID:16155193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60852105dup , CM000670.2:g.60852105dup | GRCh38 |
| NC_000008.10:g.61764664dup , CM000670.1:g.61764664dup | GRCh37 |
| NC_000008.9:g.61927218dup | NCBI36 |
| NG_007009.1:g.178326dup , LRG_176:g.178326dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695853.1:c.5752dup | ENSP00000512218.1:p.Thr1918AsnfsTer8 | |
| ENST00000423902.7:c.5752dup MANE Select | ENSP00000392028.1:p.Thr1918AsnfsTer8 | |
| ENST00000423902.6:c.5752dup | ENSP00000392028.1:p.Thr1918AsnfsTer8 | |
| ENST00000524602.5:c.1717-10124dup | ENSP00000437061.1:n.1717-10124dup | |
| ENST00000527921.1:n.243dup | ||
| NM_001316690.1:c.1717-10124dup | NP_001303619.1:n.1717-10124dup | |
| NM_017780.3:c.5752dup | NP_060250.2:p.Thr1918AsnfsTer8 | |
| XM_011517553.1:c.5842dup | XP_011515855.1:p.Thr1948AsnfsTer8 | |
| XM_011517554.1:c.5842dup | XP_011515856.1:p.Thr1948AsnfsTer8 | |
| XM_011517555.1:c.5842dup | XP_011515857.1:p.Thr1948AsnfsTer8 | |
| XM_011517556.1:c.5842dup | XP_011515858.1:p.Thr1948AsnfsTer8 | |
| XM_011517557.1:c.3829dup | XP_011515859.1:p.Thr1277AsnfsTer8 | |
| XM_011517558.1:c.3379dup | XP_011515860.1:p.Thr1127AsnfsTer8 | |
| XM_011517559.1:c.2587dup | XP_011515861.1:p.Thr863AsnfsTer8 | |
| XM_011517553.2:c.5842dup | XP_011515855.1:p.Thr1948AsnfsTer8 | |
| XM_011517554.3:c.5842dup | XP_011515856.1:p.Thr1948AsnfsTer8 | |
| XM_011517555.2:c.5842dup | XP_011515857.1:p.Thr1948AsnfsTer8 | |
| XM_017013612.1:c.5842dup | XP_016869101.1:p.Thr1948AsnfsTer8 | |
| XM_017013613.1:c.5752dup | XP_016869102.1:p.Thr1918AsnfsTer8 | |
| NM_017780.4:c.5752dup MANE Select | NP_060250.2:p.Thr1918AsnfsTer8 |