Linked Data
dbSNP Id:
rs1468629400
gnomAD v3:
4-186205094-A-ACAGTG
gnomAD v4:
4-186205094-A-ACAGTG
MyVariant Identifiers:
chr4:g.187126248_187126249insCAGTG (hg19)
chr4:g.186205094_186205095insCAGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205099_186205103dup , CM000666.2:g.186205099_186205103dup | GRCh38 |
| NC_000004.11:g.187126253_187126257dup , CM000666.1:g.187126253_187126257dup | GRCh37 |
| NC_000004.10:g.187363247_187363251dup | NCBI36 |
| NG_007965.1:g.18580_18584dup | |
| NG_012095.2:g.1121_1125dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.988-101_988-97dup MANE Select | ENSP00000368079.4:n.988-101_988-97dup | |
| ENST00000378802.4:c.988-101_988-97dup | ENSP00000368079.4:n.988-101_988-97dup | |
| ENST00000502665.1:n.222+41_222+45dup | ||
| ENST00000507209.5:n.5585_5589dup | ||
| ENST00000513354.5:n.78-101_78-97dup | ||
| NM_207352.3:c.988-101_988-97dup | NP_997235.3:n.988-101_988-97dup | |
| XM_005262935.2:c.988-101_988-97dup | XP_005262992.1:n.988-101_988-97dup | |
| XM_006714184.2:c.592-101_592-97dup | XP_006714247.1:n.592-101_592-97dup | |
| XM_005262935.4:c.988-101_988-97dup | XP_005262992.1:n.988-101_988-97dup | |
| XM_017008037.1:c.592-101_592-97dup | XP_016863526.1:n.592-101_592-97dup | |
| NM_207352.4:c.988-101_988-97dup MANE Select | NP_997235.3:n.988-101_988-97dup |