Linked Data
dbSNP Id:
rs1377798282
gnomAD v3:
9-96244840-A-AAAAATG
gnomAD v4:
9-96244840-A-AAAAATG
MyVariant Identifiers:
chr9:g.99007122_99007123insAAAATG (hg19)
chr9:g.96244840_96244841insAAAATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96244843_96244848dup , CM000671.2:g.96244843_96244848dup | GRCh38 |
| NC_000009.11:g.99007125_99007130dup , CM000671.1:g.99007125_99007130dup | GRCh37 |
| NC_000009.10:g.98046946_98046951dup | NCBI36 |
| NG_008157.1:g.62307_62312dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.607-452_607-447dup | ENSP00000364411.2:n.607-452_607-447dup | |
| ENST00000375263.8:c.607-452_607-447dup MANE Select | ENSP00000364412.3:n.607-452_607-447dup | |
| ENST00000463517.2:n.2127-430_2127-425dup | ||
| ENST00000464104.6:n.1545-452_1545-447dup | ||
| ENST00000467499.6:c.*306-452_*306-447dup | ENSP00000498077.1:n.*306-452_*306-447dup | |
| ENST00000494814.6:n.119-452_119-447dup | ||
| ENST00000643789.1:c.2899-452_2899-447dup | ||
| ENST00000648146.1:c.607-452_607-447dup | ENSP00000497238.1:n.607-452_607-447dup | |
| ENST00000648332.1:c.284-452_284-447dup | ENSP00000497562.1:n.284-452_284-447dup | |
| ENST00000648799.1:c.499-452_499-447dup | ENSP00000498039.1:n.499-452_499-447dup | |
| ENST00000650005.1:c.536-452_536-447dup | ENSP00000498121.1:n.536-452_536-447dup | |
| ENST00000375262.3:c.607-452_607-447dup | ENSP00000364411.2:n.607-452_607-447dup | |
| ENST00000375263.7:c.607-452_607-447dup | ENSP00000364412.3:n.607-452_607-447dup | |
| ENST00000464104.5:n.460-452_460-447dup | ||
| ENST00000494814.5:n.128-452_128-447dup | ||
| NM_000197.1:c.607-452_607-447dup | NP_000188.1:n.607-452_607-447dup | |
| XM_005251970.3:c.247-452_247-447dup | XP_005252027.1:n.247-452_247-447dup | |
| XM_011518618.1:c.607-452_607-447dup | XP_011516920.1:n.607-452_607-447dup | |
| XM_011518619.1:c.607-452_607-447dup | XP_011516921.1:n.607-452_607-447dup | |
| XM_011518620.1:c.499-452_499-447dup | XP_011516922.1:n.499-452_499-447dup | |
| XM_011518621.1:c.607-452_607-447dup | XP_011516923.1:n.607-452_607-447dup | |
| NM_000197.2:c.607-452_607-447dup MANE Select | NP_000188.1:n.607-452_607-447dup | |
| XM_011518618.2:c.607-452_607-447dup | XP_011516920.1:n.607-452_607-447dup | |
| XM_011518619.2:c.607-452_607-447dup | XP_011516921.1:n.607-452_607-447dup | |
| XM_017014671.1:c.607-452_607-447dup | XP_016870160.1:n.607-452_607-447dup | |
| XM_017014672.1:c.607-452_607-447dup | XP_016870161.1:n.607-452_607-447dup | |
| XM_017014673.2:c.571-452_571-447dup | XP_016870162.1:n.571-452_571-447dup | |
| XM_017014674.1:c.499-452_499-447dup | XP_016870163.1:n.499-452_499-447dup | |
| XM_017014675.1:c.445-452_445-447dup | XP_016870164.1:n.445-452_445-447dup | |
| XM_017014677.1:c.247-452_247-447dup | XP_016870166.1:n.247-452_247-447dup | |
| XM_024447529.1:c.445-452_445-447dup | XP_024303297.1:n.445-452_445-447dup | |
| XR_002956778.1:n.3041-452_3041-447dup |