Linked Data
ClinVar Variation Id:
358427
dbSNP Id:
rs55656324
gnomAD v3:
7-103989356-T-TGCCGCCGCCGCCGCCGCCGCC
gnomAD v4:
7-103989356-T-TGCCGCCGCCGCCGCCGCCGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103989362_103989382dup , CM000669.2:g.103989362_103989382dup | GRCh38 |
| NC_000007.13:g.103629809_103629829dup , CM000669.1:g.103629809_103629829dup | GRCh37 |
| NC_000007.12:g.103417045_103417065dup | NCBI36 |
| NG_011877.1:g.5140_5160dup | |
| NG_011877.2:g.5140_5160dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.-21_-1dup | ENSP00000388446.3:p.Met1insGlyGlyGlyGlyGlyGlyGly | |
| ENST00000428762.6:c.-21_-1dup MANE Select | ENSP00000392423.1:p.Met1insGlyGlyGlyGlyGlyGlyGly | |
| ENST00000473457.2:n.244_264dup | ||
| ENST00000679689.1:n.140_160dup | ||
| ENST00000681034.1:c.-21_-1dup | ENSP00000506075.1:p.Met1insGlyGlyGlyGlyGlyGlyGly | |
| ENST00000681182.1:n.231_251dup | ||
| ENST00000681401.1:n.256_276dup | ||
| ENST00000343529.9:c.-21_-1dup | ENSP00000345694.5:p.Met1insGlyGlyGlyGlyGlyGlyGly | |
| ENST00000424685.2:c.-21_-1dup | ENSP00000388446.2:p.Met1insGlyGlyGlyGlyGlyGlyGly | |
| ENST00000428762.5:c.-21_-1dup | ENSP00000392423.1:p.Met1insGlyGlyGlyGlyGlyGlyGly | |
| NM_005045.3:c.-21_-1dup | NP_005036.2:p.Met1insGlyGlyGlyGlyGlyGlyGly | |
| NM_173054.2:c.-21_-1dup | NP_774959.1:p.Met1insGlyGlyGlyGlyGlyGlyGly | |
| NM_005045.4:c.-21_-1dup MANE Select | NP_005036.2:p.Met1insGlyGlyGlyGlyGlyGlyGly | |
| NM_173054.3:c.-21_-1dup | NP_774959.1:p.Met1insGlyGlyGlyGlyGlyGlyGly |