Linked Data
ClinVar Variation Id:
2893844
ClinVar RCV Id:
RCV003733017
dbSNP Id:
rs1447164521
gnomAD v2:
18-21478678-CATTCATT-C
gnomAD v3:
18-23898714-CATTCATT-C
gnomAD v4:
18-23898714-CATTCATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23898715_23898721del , CM000680.2:g.23898715_23898721del | GRCh38 |
| NC_000018.9:g.21478679_21478685del , CM000680.1:g.21478679_21478685del | GRCh37 |
| NC_000018.8:g.19732677_19732683del | NCBI36 |
| NG_007853.2:g.214118_214124del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.787-23_787-17del MANE Plus Clinical | ENSP00000269217.5:n.787-23_787-17del | |
| ENST00000313654.14:c.5614-23_5614-17del MANE Select | ENSP00000324532.8:n.5614-23_5614-17del | |
| ENST00000649721.1:c.2506-23_2506-17del | ENSP00000497885.1:n.2506-23_2506-17del | |
| ENST00000269217.10:c.787-23_787-17del | ENSP00000269217.5:n.787-23_787-17del | |
| ENST00000313654.13:c.5614-23_5614-17del | ENSP00000324532.8:n.5614-23_5614-17del | |
| ENST00000399516.7:c.5614-23_5614-17del | ENSP00000382432.2:n.5614-23_5614-17del | |
| ENST00000586751.5:c.392-23_392-17del | ||
| ENST00000587184.5:c.787-23_787-17del | ENSP00000466557.1:n.787-23_787-17del | |
| ENST00000588770.5:n.192-23_192-17del | ||
| NM_000227.4:c.787-23_787-17del | NP_000218.3:n.787-23_787-17del | |
| NM_001127717.2:c.5614-23_5614-17del | NP_001121189.2:n.5614-23_5614-17del | |
| NM_001127718.2:c.787-23_787-17del | NP_001121190.2:n.787-23_787-17del | |
| NM_198129.2:c.5614-23_5614-17del | NP_937762.2:n.5614-23_5614-17del | |
| XM_011525978.1:c.5641-23_5641-17del | XP_011524280.1:n.5641-23_5641-17del | |
| XM_011525979.1:c.5632-23_5632-17del | XP_011524281.1:n.5632-23_5632-17del | |
| XM_011525980.1:c.5623-23_5623-17del | XP_011524282.1:n.5623-23_5623-17del | |
| XM_011525981.1:c.5509-23_5509-17del | XP_011524283.1:n.5509-23_5509-17del | |
| XM_011525982.1:c.5641-23_5641-17del | XP_011524284.1:n.5641-23_5641-17del | |
| XM_011525978.2:c.5641-23_5641-17del | XP_011524280.1:n.5641-23_5641-17del | |
| XM_011525979.2:c.5632-23_5632-17del | XP_011524281.1:n.5632-23_5632-17del | |
| XM_011525980.2:c.5623-23_5623-17del | XP_011524282.1:n.5623-23_5623-17del | |
| XM_011525981.2:c.5509-23_5509-17del | XP_011524283.1:n.5509-23_5509-17del | |
| XM_011525982.2:c.5641-23_5641-17del | XP_011524284.1:n.5641-23_5641-17del | |
| XM_017025743.1:c.3493-23_3493-17del | XP_016881232.1:n.3493-23_3493-17del | |
| XM_017025744.1:c.1183-23_1183-17del | XP_016881233.1:n.1183-23_1183-17del | |
| XR_001753199.1:n.5882-23_5882-17del | ||
| NM_000227.5:c.787-23_787-17del | NP_000218.3:n.787-23_787-17del | |
| NM_001127717.3:c.5614-23_5614-17del | NP_001121189.2:n.5614-23_5614-17del | |
| NM_001127718.3:c.787-23_787-17del | NP_001121190.2:n.787-23_787-17del | |
| NM_198129.3:c.5614-23_5614-17del | NP_937762.2:n.5614-23_5614-17del | |
| NM_000227.6:c.787-23_787-17del MANE Plus Clinical | NP_000218.3:n.787-23_787-17del | |
| NM_001127717.4:c.5614-23_5614-17del | NP_001121189.2:n.5614-23_5614-17del | |
| NM_001127718.4:c.787-23_787-17del | NP_001121190.2:n.787-23_787-17del | |
| NM_198129.4:c.5614-23_5614-17del MANE Select | NP_937762.2:n.5614-23_5614-17del |