Linked Data
ClinVar Variation Id:
1220642
ClinVar RCV Id:
RCV001595204
dbSNP Id:
rs3831056
gnomAD v2:
9-98997910-ATCTTTGTGG-A
gnomAD v3:
9-96235628-ATCTTTGTGG-A
gnomAD v4:
9-96235628-ATCTTTGTGG-A
COSMIC:
COSN20044406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96235634_96235642del , CM000671.2:g.96235634_96235642del | GRCh38 |
| NC_000009.11:g.98997916_98997924del , CM000671.1:g.98997916_98997924del | GRCh37 |
| NC_000009.10:g.98037737_98037745del | NCBI36 |
| NG_008157.1:g.71516_71524del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.673-67_673-59del | ENSP00000364411.2:n.673-67_673-59del | |
| ENST00000375263.8:c.823-67_823-59del MANE Select | ENSP00000364412.3:n.823-67_823-59del | |
| ENST00000463517.2:n.2365-67_2365-59del | ||
| ENST00000464104.6:n.1761-67_1761-59del | ||
| ENST00000467499.6:c.*522-67_*522-59del | ENSP00000498077.1:n.*522-67_*522-59del | |
| ENST00000494814.6:n.373-67_373-59del | ||
| ENST00000643789.1:c.3115-67_3115-59del | ||
| ENST00000648146.1:c.961-67_961-59del | ENSP00000497238.1:n.961-67_961-59del | |
| ENST00000648332.1:c.500-67_500-59del | ENSP00000497562.1:n.500-67_500-59del | |
| ENST00000648799.1:c.715-67_715-59del | ENSP00000498039.1:n.715-67_715-59del | |
| ENST00000650005.1:c.752-67_752-59del | ENSP00000498121.1:n.752-67_752-59del | |
| ENST00000375262.3:c.673-67_673-59del | ENSP00000364411.2:n.673-67_673-59del | |
| ENST00000375263.7:c.823-67_823-59del | ENSP00000364412.3:n.823-67_823-59del | |
| ENST00000464104.5:n.676-67_676-59del | ||
| ENST00000467499.5:n.83-67_83-59del | ||
| ENST00000494814.5:n.382-67_382-59del | ||
| NM_000197.1:c.823-67_823-59del | NP_000188.1:n.823-67_823-59del | |
| XM_005251970.3:c.463-67_463-59del | XP_005252027.1:n.463-67_463-59del | |
| XM_011518618.1:c.823-67_823-59del | XP_011516920.1:n.823-67_823-59del | |
| XM_011518619.1:c.823-67_823-59del | XP_011516921.1:n.823-67_823-59del | |
| XM_011518620.1:c.715-67_715-59del | XP_011516922.1:n.715-67_715-59del | |
| NM_000197.2:c.823-67_823-59del MANE Select | NP_000188.1:n.823-67_823-59del | |
| XM_011518618.2:c.823-67_823-59del | XP_011516920.1:n.823-67_823-59del | |
| XM_011518619.2:c.823-67_823-59del | XP_011516921.1:n.823-67_823-59del | |
| XM_017014671.1:c.823-67_823-59del | XP_016870160.1:n.823-67_823-59del | |
| XM_017014672.1:c.823-67_823-59del | XP_016870161.1:n.823-67_823-59del | |
| XM_017014673.2:c.787-67_787-59del | XP_016870162.1:n.787-67_787-59del | |
| XM_017014674.1:c.715-67_715-59del | XP_016870163.1:n.715-67_715-59del | |
| XM_017014675.1:c.661-67_661-59del | XP_016870164.1:n.661-67_661-59del | |
| XM_017014677.1:c.463-67_463-59del | XP_016870166.1:n.463-67_463-59del | |
| XM_024447529.1:c.661-67_661-59del | XP_024303297.1:n.661-67_661-59del | |
| XR_002956778.1:n.3295-67_3295-59del |