Linked Data
ClinVar Variation Id:
2967446
ClinVar RCV Id:
RCV003824124
dbSNP Id:
rs1488905499
gnomAD v2:
2-44145382-CA-C
gnomAD v3:
2-43918243-CA-C
gnomAD v4:
2-43918243-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918248del , CM000664.2:g.43918248del | GRCh38 |
| NC_000002.11:g.44145387del , CM000664.1:g.44145387del | GRCh37 |
| NC_000002.10:g.43998891del | NCBI36 |
| NG_008247.1:g.82762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.591+12del | ||
| ENST00000682295.1:c.303+12del | ENSP00000507499.1:n.303+12del | |
| ENST00000682303.1:c.*2825+12del | ENSP00000508325.1:n.*2825+12del | |
| ENST00000682308.1:c.3039+12del | ENSP00000507056.1:n.3039+12del | |
| ENST00000682480.1:c.3039+12del | ENSP00000508344.1:n.3039+12del | |
| ENST00000682546.1:c.3036+12del | ENSP00000508188.1:n.3036+12del | |
| ENST00000682585.1:c.3039+12del | ENSP00000506885.1:n.3039+12del | |
| ENST00000682595.1:n.3623+12del | ||
| ENST00000682607.1:c.1457+12del | ||
| ENST00000682779.1:c.3030+12del | ENSP00000507947.1:n.3030+12del | |
| ENST00000682845.1:n.2141+12del | ||
| ENST00000682885.1:c.2994+12del | ENSP00000508036.1:n.2994+12del | |
| ENST00000682933.1:n.3113+12del | ||
| ENST00000683072.1:n.3623+12del | ||
| ENST00000683080.1:n.658+12del | ||
| ENST00000683125.1:c.3147+12del | ENSP00000507939.1:n.3147+12del | |
| ENST00000683213.1:c.3042+12del | ENSP00000507751.1:n.3042+12del | |
| ENST00000683220.1:c.3069+12del | ENSP00000507151.1:n.3069+12del | |
| ENST00000683329.1:n.3842+12del | ||
| ENST00000683346.1:c.*2914+12del | ENSP00000507458.1:n.*2914+12del | |
| ENST00000683409.1:n.1646+12del | ||
| ENST00000683459.1:n.3626+12del | ||
| ENST00000683590.1:c.2897-5686del | ENSP00000506820.1:n.2897-5686del | |
| ENST00000683623.1:c.2946+12del | ENSP00000507702.1:n.2946+12del | |
| ENST00000683645.1:n.3590+12del | ||
| ENST00000683796.1:c.*2911+12del | ENSP00000508221.1:n.*2911+12del | |
| ENST00000683802.1:n.5964+12del | ||
| ENST00000683833.1:c.3030+12del | ENSP00000506852.1:n.3030+12del | |
| ENST00000683994.1:c.3039+12del | ENSP00000507181.1:n.3039+12del | |
| ENST00000684290.1:c.*575+12del | ENSP00000507243.1:n.*575+12del | |
| ENST00000684306.1:c.*2952+12del | ENSP00000508384.1:n.*2952+12del | |
| ENST00000684341.1:n.3059+12del | ||
| ENST00000684383.1:c.*2677+12del | ENSP00000506863.1:n.*2677+12del | |
| ENST00000684619.1:c.*2911+12del | ENSP00000508088.1:n.*2911+12del | |
| ENST00000684705.1:n.160+12del | ||
| ENST00000684743.1:n.4070+12del | ||
| ENST00000260665.12:c.3039+12del MANE Select | ENSP00000260665.7:n.3039+12del | |
| ENST00000260665.11:c.3039+12del | ENSP00000260665.7:n.3039+12del | |
| NM_133259.3:c.3039+12del | NP_573566.2:n.3039+12del | |
| XM_006711915.2:c.2961+12del | XP_006711978.1:n.2961+12del | |
| XM_006711916.2:c.3039+12del | XP_006711979.1:n.3039+12del | |
| XM_011532473.1:c.3039+12del | XP_011530775.1:n.3039+12del | |
| XM_011532474.1:c.3039+12del | XP_011530776.1:n.3039+12del | |
| XM_006711916.3:c.3039+12del | XP_006711979.1:n.3039+12del | |
| XM_017003117.1:c.2961+12del | XP_016858606.1:n.2961+12del | |
| XR_002958896.1:n.3081+12del | ||
| NM_133259.4:c.3039+12del MANE Select | NP_573566.2:n.3039+12del |