Canonical Allele Identifier: CA2670372697
Gene: KLB HGNC NCBI

Linked Data

gnomAD v4: 4-39446919-GCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446921_39446922del , CM000666.2:g.39446921_39446922del GRCh38
NC_000004.11:g.39448541_39448542del , CM000666.1:g.39448541_39448542del GRCh37
NC_000004.10:g.39124936_39124937del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2195_2196del MANE Select ENSP00000257408.4:p.Pro732LeufsTer23
ENST00000257408.4:c.2195_2196del ENSP00000257408.4:p.Pro732LeufsTer23
NM_175737.3:c.2195_2196del NP_783864.1:p.Pro732LeufsTer23
XM_005262644.1:c.2168_2169del XP_005262701.1:p.Pro723LeufsTer23
NM_175737.4:c.2195_2196del MANE Select NP_783864.1:p.Pro732LeufsTer23
Search 100 bp 5'
Search 100 bp 3'