Canonical Allele Identifier: CA2677956565
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31356181-T-TGCGGAGCCACTCCACGCACA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31356181_31356182insGCGGAGCCACTCCACGCACA , CM000668.2:g.31356181_31356182insGCGGAGCCACTCCACGCACA GRCh38
NC_000006.11:g.31323958_31323959insGCGGAGCCACTCCACGCACA , CM000668.1:g.31323958_31323959insGCGGAGCCACTCCACGCACA GRCh37
NC_000006.10:g.31431937_31431938insGCGGAGCCACTCCACGCACA NCBI36
NG_023187.1:g.6031_6032insTGTGCGTGGAGTGGCTCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.2077_2078insTGTGCGTGGAGTGGCTCCGC
ENST00000481849.6:n.2077_2078insTGTGCGTGGAGTGGCTCCGC
ENST00000497377.6:n.2077_2078insTGTGCGTGGAGTGGCTCCGC
ENST00000640094.2:c.604_605insTGTGCGTGGAGTGGCTCCGC ENSP00000491275.2:p.Lys202MetfsTer19
ENST00000696558.1:c.604_605insTGTGCGTGGAGTGGCTCCGC ENSP00000512716.1:p.Lys202MetfsTer?
ENST00000696559.1:c.604_605insTGTGCGTGGAGTGGCTCCGC ENSP00000512717.1:p.Lys202MetfsTer19
ENST00000696560.1:c.604_605insTGTGCGTGGAGTGGCTCCGC ENSP00000512718.1:p.Lys202MetfsTer19
ENST00000696561.1:c.604_605insTGTGCGTGGAGTGGCTCCGC ENSP00000512719.1:p.Lys202MetfsTer19
ENST00000696562.1:c.604_605insTGTGCGTGGAGTGGCTCCGC ENSP00000512720.1:p.Lys202MetfsTer19
ENST00000412585.7:c.604_605insTGTGCGTGGAGTGGCTCCGC MANE Select ENSP00000399168.2:p.Lys202MetfsTer19
ENST00000412585.6:c.604_605insTGTGCGTGGAGTGGCTCCGC ENSP00000399168.2:p.Lys202MetfsTer19
ENST00000434333.1:c.637_638insTGTGCGTGGAGTGGCTCCGC ENSP00000405931.1:p.Lys213MetfsTer19
ENST00000474381.1:n.479_480insTGTGCGTGGAGTGGCTCCGC
ENST00000498007.1:n.870_871insTGTGCGTGGAGTGGCTCCGC
NM_005514.6:c.604_605insTGTGCGTGGAGTGGCTCCGC NP_005505.2:p.Lys202MetfsTer19
XM_011514556.1:c.637_638insTGTGCGTGGAGTGGCTCCGC XP_011512858.1:p.Lys213MetfsTer19
XM_011514557.1:c.604_605insTGTGCGTGGAGTGGCTCCGC XP_011512859.1:p.Lys202MetfsTer19
XR_926175.1:n.614_615insTGTGCGTGGAGTGGCTCCGC
NM_005514.7:c.604_605insTGTGCGTGGAGTGGCTCCGC NP_005505.2:p.Lys202MetfsTer19
NM_005514.8:c.604_605insTGTGCGTGGAGTGGCTCCGC MANE Select NP_005505.2:p.Lys202MetfsTer19
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