Canonical Allele Identifier: CA1033366553
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

gnomAD v3: 2-88859604-T-TGTACAGTGAGGGATCTCACCCTTTCCCCTCAACAAAAACCTCTCTTGAAGCCAATCATATG
gnomAD v4: 2-88859604-T-TGTACAGTGAGGGATCTCACCCTTTCCCCTCAACAAAAACCTCTCTTGAAGCCAATCATATG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859605_88859606insTACAGTGAGGGATCTCACCCTTTCCCCTCAACAAAAACCTCTCTTGAAGCCAATCATATGG , CM000664.2:g.88859605_88859606insTACAGTGAGGGATCTCACCCTTTCCCCTCAACAAAAACCTCTCTTGAAGCCAATCATATGG GRCh38
NC_000002.11:g.89159117_89159118insTACAGTGAGGGATCTCACCCTTTCCCCTCAACAAAAACCTCTCTTGAAGCCAATCATATGG , CM000664.1:g.89159117_89159118insTACAGTGAGGGATCTCACCCTTTCCCCTCAACAAAAACCTCTCTTGAAGCCAATCATATGG GRCh37
NC_000002.10:g.88940232_88940233insTACAGTGAGGGATCTCACCCTTTCCCCTCAACAAAAACCTCTCTTGAAGCCAATCATATGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1922_389-1921insCATATGATTGGCTTCAAGAGAGGTTTTTGTTGAGGGGAAAGGGTGAGATCCCTCACTGTAC (IGKV1-12) ENSP00000480537.2:n.389-1922_389-1921insCATATGATTGGCTTCAAGAGA...
ENST00000430694.5:c.37+1281_37+1282insCATATGATTGGCTTCAAGAGAGGTTTTTGTTGAGGGGAAAGGGTGAGATCCCTCACTGTAC (IGKC) ENSP00000481923.2:n.37+1281_37+1282insCATATGATTGGCTTCAAGAGAGG...
ENST00000610638.3:c.397+1920_398-1921insCATATGATTGGCTTCAAGAGAGGTTTTTGTTGAGGGGAAAGGGTGAGATCCCTCACTGTAC (IGKC) ENSP00000484499.3:n.397+1920_398-1921insCATATGATTGGCTTCAAGAGA...
ENST00000634828.1:c.382+1920_383-1921insCATATGATTGGCTTCAAGAGAGGTTTTTGTTGAGGGGAAAGGGTGAGATCCCTCACTGTAC (IGKV1-8) ENSP00000489500.1:n.382+1920_383-1921insCATATGATTGGCTTCAAGAGA...
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