Linked Data
gnomAD v2:
6-49415369-C-CAAAA
gnomAD v3:
6-49447656-C-CAAAA
gnomAD v4:
6-49447656-C-CAAAA
MyVariant Identifiers:
chr6:g.49415369_49415370insAAAA (hg19)
chr6:g.49447656_49447657insAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447658_49447659insAAAA , CM000668.2:g.49447658_49447659insAAAA | GRCh38 |
| NC_000006.11:g.49415371_49415372insAAAA , CM000668.1:g.49415371_49415372insAAAA | GRCh37 |
| NC_000006.10:g.49523330_49523331insAAAA | NCBI36 |
| NG_007100.1:g.20483_20484insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1560+13_1560+14insTTTT MANE Select | ENSP00000274813.3:n.1560+13_1560+14insTTTT | |
| ENST00000274813.3:c.1560+13_1560+14insTTTT | ENSP00000274813.3:n.1560+13_1560+14insTTTT | |
| NM_000255.3:c.1560+13_1560+14insTTTT | NP_000246.2:n.1560+13_1560+14insTTTT | |
| XM_005249143.2:c.1560+13_1560+14insTTTT | XP_005249200.1:n.1560+13_1560+14insTTTT | |
| XM_005249143.3:c.1560+13_1560+14insTTTT | XP_005249200.1:n.1560+13_1560+14insTTTT | |
| NM_000255.4:c.1560+13_1560+14insTTTT MANE Select | NP_000246.2:n.1560+13_1560+14insTTTT |