Linked Data
dbSNP Id:
rs764869438
ExAC:
6:32150026 A / ATGATGC
gnomAD v2:
6-32150026-A-ATGATGC
MyVariant Identifiers:
chr6:g.32150026_32150027insTGATGC (hg19)
chr6:g.32182249_32182250insTGATGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32182259_32182264dup , CM000668.2:g.32182259_32182264dup | GRCh38 |
| NC_000006.11:g.32150036_32150041dup , CM000668.1:g.32150036_32150041dup | GRCh37 |
| NC_000006.10:g.32258014_32258019dup | NCBI36 |
| NG_029868.1:g.7068_7073dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.956_961dup MANE Select | ENSP00000364217.4:p.Ile320_Ile321insSerIle | |
| ENST00000375055.6:c.956_961dup | ENSP00000364195.2:p.Ile320_Ile321insSerIle | |
| ENST00000375065.6:c.143_148dup | ENSP00000364206.6:p.Ile49_Ile50insSerIle | |
| ENST00000375067.7:c.809+284_809+289dup | ENSP00000364208.3:n.809+284_809+289dup | |
| ENST00000375069.7:c.1004_1009dup | ENSP00000364210.4:p.Ile336_Ile337insSerIle | |
| ENST00000375070.7:c.653_658dup | ENSP00000364211.4:p.Ile219_Ile220insSerIle | |
| ENST00000375076.8:c.956_961dup | ENSP00000364217.4:p.Ile320_Ile321insSerIle | |
| ENST00000438221.6:c.1004_1009dup | ENSP00000387887.2:p.Ile336_Ile337insSerIle | |
| ENST00000473619.5:n.498_503dup | ||
| ENST00000484849.5:n.1163_1168dup | ||
| ENST00000488669.5:n.498_503dup | ||
| ENST00000620802.4:c.283-822_283-817dup | ENSP00000484081.1:n.283-822_283-817dup | |
| NM_001136.4:c.956_961dup | NP_001127.1:p.Ile320_Ile321insSerIle | |
| NM_001206929.1:c.1004_1009dup | NP_001193858.1:p.Ile336_Ile337insSerIle | |
| NM_001206932.1:c.914_919dup | NP_001193861.1:p.Ile306_Ile307insSerIle | |
| NM_001206934.1:c.1004_1009dup | NP_001193863.1:p.Ile336_Ile337insSerIle | |
| NM_001206936.1:c.904_909dup | NP_001193865.1:p.Ser303_Ser304insAlaSer | |
| NM_001206940.1:c.956_961dup | NP_001193869.1:p.Ile320_Ile321insSerIle | |
| NM_001206954.1:c.822+313_822+318dup | NP_001193883.1:n.822+313_822+318dup | |
| NM_001206966.1:c.956_961dup | NP_001193895.1:p.Ile320_Ile321insSerIle | |
| NM_172197.2:c.809+284_809+289dup | NP_751947.1:n.809+284_809+289dup | |
| NR_038190.1:n.1239_1244dup | ||
| XM_017010328.2:c.963+313_963+318dup | XP_016865817.1:n.963+313_963+318dup | |
| XR_001743189.2:n.1028+313_1028+318dup | ||
| XR_001743190.2:n.980+313_980+318dup | ||
| NM_001136.5:c.956_961dup MANE Select | NP_001127.1:p.Ile320_Ile321insSerIle | |
| NM_001206932.2:c.914_919dup | NP_001193861.1:p.Ile306_Ile307insSerIle | |
| NM_001206936.2:c.904_909dup | NP_001193865.1:p.Ser303_Ser304insAlaSer | |
| NM_001206940.2:c.956_961dup | NP_001193869.1:p.Ile320_Ile321insSerIle | |
| NM_001206954.2:c.822+313_822+318dup | NP_001193883.1:n.822+313_822+318dup | |
| NM_001206966.2:c.956_961dup | NP_001193895.1:p.Ile320_Ile321insSerIle | |
| NM_172197.3:c.809+284_809+289dup | NP_751947.1:n.809+284_809+289dup | |
| NR_038190.2:n.1170_1175dup | ||
| NM_001206929.2:c.1004_1009dup | NP_001193858.1:p.Ile336_Ile337insSerIle | |
| NM_001206934.2:c.1004_1009dup | NP_001193863.1:p.Ile336_Ile337insSerIle |