Linked Data
dbSNP Id:
rs1675129580
gnomAD v3:
2-88859770-T-TAAAACGGCCTTCTC
gnomAD v4:
2-88859770-T-TAAAACGGCCTTCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88859770_88859771insAAAACGGCCTTCTC , CM000664.2:g.88859770_88859771insAAAACGGCCTTCTC | GRCh38 |
| NC_000002.11:g.89159282_89159283insAAAACGGCCTTCTC , CM000664.1:g.89159282_89159283insAAAACGGCCTTCTC | GRCh37 |
| NC_000002.10:g.88940397_88940398insAAAACGGCCTTCTC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377423.6:c.389-2088_389-2087insGAGAAGGCCGTTTT (IGKV1-12) | ENSP00000480537.2:n.389-2088_389-2087insGAGAAGGCCGTTTT | |
| ENST00000430694.5:c.37+1115_37+1116insGAGAAGGCCGTTTT (IGKC) | ENSP00000481923.2:n.37+1115_37+1116insGAGAAGGCCGTTTT | |
| ENST00000610638.3:c.397+1754_397+1755insGAGAAGGCCGTTTT (IGKC) | ENSP00000484499.3:n.397+1754_397+1755insGAGAAGGCCGTTTT | |
| ENST00000634828.1:c.382+1754_382+1755insGAGAAGGCCGTTTT (IGKV1-8) | ENSP00000489500.1:n.382+1754_382+1755insGAGAAGGCCGTTTT |