Linked Data
dbSNP Id:
rs1560619895
gnomAD v2:
4-3258321-G-GT
gnomAD v3:
4-3256594-G-GT
gnomAD v4:
4-3256594-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256595dup , CM000666.2:g.3256595dup | GRCh38 |
| NC_000004.11:g.3258322dup , CM000666.1:g.3258322dup | GRCh37 |
| NC_000004.10:g.3228120dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438480.7:c.*630dup MANE Select | ENSP00000411584.2:n.*630dup | |
| ENST00000505599.5:c.729+738dup | ENSP00000425405.1:n.729+738dup | |
| ENST00000507492.5:c.*630dup | ENSP00000423547.1:n.*630dup | |
| ENST00000510580.1:c.765+702dup | ENSP00000420966.1:n.765+702dup | |
| NM_001042690.1:c.*630dup | NP_001036155.1:n.*630dup | |
| XM_006713883.2:c.*630dup | XP_006713946.1:n.*630dup | |
| XM_011513464.1:c.729+738dup | XP_011511766.1:n.729+738dup | |
| XM_011513465.1:c.*630dup | XP_011511767.1:n.*630dup | |
| XM_011513466.1:c.*630dup | XP_011511768.1:n.*630dup | |
| XM_011513467.1:c.*630dup | XP_011511769.1:n.*630dup | |
| XR_924950.1:n.753+738dup | ||
| NM_001330620.1:c.*630dup | NP_001317549.1:n.*630dup | |
| XM_011513466.3:c.*630dup | XP_011511768.1:n.*630dup | |
| XM_011513467.3:c.*630dup | XP_011511769.1:n.*630dup | |
| NM_001042690.2:c.*630dup MANE Select | NP_001036155.1:n.*630dup | |
| NM_001330620.2:c.*630dup | NP_001317549.1:n.*630dup |