Linked Data
ClinVar Variation Id:
555987
dbSNP Id:
rs1439195599
gnomAD v2:
4-187205238-TGTTG-T
gnomAD v3:
4-186284084-TGTTG-T
gnomAD v4:
4-186284084-TGTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284085_186284088del , CM000666.2:g.186284085_186284088del | GRCh38 |
| NC_000004.11:g.187205239_187205242del , CM000666.1:g.187205239_187205242del | GRCh37 |
| NC_000004.10:g.187442233_187442236del | NCBI36 |
| NG_008051.1:g.23122_23125del , LRG_583:g.23122_23125del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1136-7_1136-4del MANE Select | ENSP00000384957.2:n.1136-7_1136-4del | |
| ENST00000264692.8:c.974-7_974-4del | ENSP00000264692.5:n.974-7_974-4del | |
| ENST00000403665.6:c.1136-7_1136-4del | ENSP00000384957.2:n.1136-7_1136-4del | |
| NM_000128.3:c.1136-7_1136-4del , LRG_583t1:c.1136-7_1136-4del | NP_000119.1:n.1136-7_1136-4del | |
| XM_005262821.2:c.1139-7_1139-4del | XP_005262878.1:n.1139-7_1139-4del | |
| XM_005262822.2:c.1139-7_1139-4del | XP_005262879.1:n.1139-7_1139-4del | |
| XM_005262823.2:c.869-7_869-4del | XP_005262880.1:n.869-7_869-4del | |
| XM_005262824.1:c.1139-7_1139-4del | XP_005262881.1:n.1139-7_1139-4del | |
| XM_006714137.1:c.1091-7_1091-4del | XP_006714200.1:n.1091-7_1091-4del | |
| XR_938706.1:n.1544-7_1544-4del | ||
| XR_938707.1:n.1544-7_1544-4del | ||
| XM_005262821.4:c.1139-7_1139-4del | XP_005262878.1:n.1139-7_1139-4del | |
| XM_005262822.4:c.1139-7_1139-4del | XP_005262879.1:n.1139-7_1139-4del | |
| XM_005262823.4:c.869-7_869-4del | XP_005262880.1:n.869-7_869-4del | |
| XM_006714137.3:c.1091-7_1091-4del | XP_006714200.1:n.1091-7_1091-4del | |
| XM_017007884.2:c.*2101_*2104del | XP_016863373.1:n.*2101_*2104del | |
| XM_017007885.2:c.*4-7_*4-4del | XP_016863374.1:n.*4-7_*4-4del | |
| XR_001741172.2:n.1610-7_1610-4del | ||
| NM_000128.4:c.1136-7_1136-4del MANE Select | NP_000119.1:n.1136-7_1136-4del |