Linked Data
dbSNP Id:
rs780538465
ExAC:
4:6302907 A / AGGTCACCGC
gnomAD v2:
4-6302907-A-AGGTCACCGC
gnomAD v4:
4-6301180-A-AGGTCACCGC
MyVariant Identifiers:
chr4:g.6302907_6302908insGGTCACCGC (hg19)
chr4:g.6301180_6301181insGGTCACCGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301181_6301189dup , CM000666.2:g.6301181_6301189dup | GRCh38 |
| NC_000004.11:g.6302908_6302916dup , CM000666.1:g.6302908_6302916dup | GRCh37 |
| NC_000004.10:g.6353809_6353817dup | NCBI36 |
| NG_011700.1:g.36332_36340dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1422_1430dup | ENSP00000507852.1:p.Ala477_Gly478insValThrAla | |
| ENST00000683395.1:c.1363_1371dup | ||
| ENST00000684087.1:c.1386_1394dup | ENSP00000506978.1:p.Ala465_Gly466insValThrAla | |
| ENST00000506362.2:c.1137_1145dup | ENSP00000424103.2:p.Ala382_Gly383insValThrAla | |
| ENST00000673642.1:c.1045_1053dup | ENSP00000501242.1:p.Arg351_Arg352insGlyHisArg | |
| ENST00000673991.1:c.1422_1430dup | ENSP00000501033.1:p.Ala477_Gly478insValThrAla | |
| ENST00000226760.5:c.1386_1394dup MANE Select | ENSP00000226760.1:p.Ala465_Gly466insValThrAla | |
| ENST00000503569.5:c.1386_1394dup | ENSP00000423337.1:p.Ala465_Gly466insValThrAla | |
| ENST00000507765.1:n.1571_1579dup | ||
| NM_001145853.1:c.1386_1394dup | NP_001139325.1:p.Ala465_Gly466insValThrAla | |
| NM_006005.3:c.1386_1394dup MANE Select | NP_005996.2:p.Ala465_Gly466insValThrAla | |
| XM_017008586.1:c.1395_1403dup | XP_016864075.1:p.Ala468_Gly469insValThrAla |