Linked Data
ClinVar Variation Id:
358424
dbSNP Id:
rs55656324
gnomAD v2:
7-103629803-T-TGCCGCCGCCGCC
gnomAD v3:
7-103989356-T-TGCCGCCGCCGCC
gnomAD v4:
7-103989356-T-TGCCGCCGCCGCC
MyVariant Identifiers:
chr7:g.103629804_103629815dupGCCGCCGCCGCC (hg19)
chr7:g.103629815_103629816insGCCGCCGCCGCC (hg19)
chr7:g.103629809_103629810insGCCGCCGCCGCC (hg19)
chr7:g.103629806_103629807insGCCGCCGCCGCC (hg19)
chr7:g.103629803_103629804insGCCGCCGCCGCC (hg19)
chr7:g.103989357_103989368dupGCCGCCGCCGCC (hg38)
chr7:g.103989368_103989369insGCCGCCGCCGCC (hg38)
chr7:g.103989356_103989357insGCCGCCGCCGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103989371_103989382dup , CM000669.2:g.103989371_103989382dup | GRCh38 |
| NC_000007.13:g.103629818_103629829dup , CM000669.1:g.103629818_103629829dup | GRCh37 |
| NC_000007.12:g.103417054_103417065dup | NCBI36 |
| NG_011877.1:g.5149_5160dup | |
| NG_011877.2:g.5149_5160dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.-12_-1dup | ENSP00000388446.3:p.Met1insGlyGlyGlyGly | |
| ENST00000428762.6:c.-12_-1dup MANE Select | ENSP00000392423.1:p.Met1insGlyGlyGlyGly | |
| ENST00000473457.2:n.253_264dup | ||
| ENST00000679689.1:n.149_160dup | ||
| ENST00000681034.1:c.-12_-1dup | ENSP00000506075.1:p.Met1insGlyGlyGlyGly | |
| ENST00000681182.1:n.240_251dup | ||
| ENST00000681401.1:n.265_276dup | ||
| ENST00000343529.9:c.-12_-1dup | ENSP00000345694.5:p.Met1insGlyGlyGlyGly | |
| ENST00000424685.2:c.-12_-1dup | ENSP00000388446.2:p.Met1insGlyGlyGlyGly | |
| ENST00000428762.5:c.-12_-1dup | ENSP00000392423.1:p.Met1insGlyGlyGlyGly | |
| NM_005045.3:c.-12_-1dup | NP_005036.2:p.Met1insGlyGlyGlyGly | |
| NM_173054.2:c.-12_-1dup | NP_774959.1:p.Met1insGlyGlyGlyGly | |
| NM_005045.4:c.-12_-1dup MANE Select | NP_005036.2:p.Met1insGlyGlyGlyGly | |
| NM_173054.3:c.-12_-1dup | NP_774959.1:p.Met1insGlyGlyGlyGly |