Canonical Allele Identifier: CA1061350602

Gene: KLB

Linked Data

• gnomAD v3: 4-39446922-C-CCCCCCCCCCCCCCCCCCCCCCCG
• gnomAD v4: 4-39446922-C-CCCCCCCCCCCCCCCCCCCCCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39446922_39446923insCCCCCCCCCCCCCCCCCCCCCCG , CM000666.2:g.39446922_39446923insCCCCCCCCCCCCCCCCCCCCCCG	GRCh38
NC_000004.11:g.39448542_39448543insCCCCCCCCCCCCCCCCCCCCCCG , CM000666.1:g.39448542_39448543insCCCCCCCCCCCCCCCCCCCCCCG	GRCh37
NC_000004.10:g.39124937_39124938insCCCCCCCCCCCCCCCCCCCCCCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.2196_2197insCCCCCCCCCCCCCCCCCCCCCCG MANE Select	ENSP00000257408.4:p.Ser733ProfsTer?
ENST00000257408.4:c.2196_2197insCCCCCCCCCCCCCCCCCCCCCCG	ENSP00000257408.4:p.Ser733ProfsTer?
NM_175737.3:c.2196_2197insCCCCCCCCCCCCCCCCCCCCCCG	NP_783864.1:p.Ser733ProfsTer?
XM_005262644.1:c.2169_2170insCCCCCCCCCCCCCCCCCCCCCCG	XP_005262701.1:p.Ser724ProfsTer?
NM_175737.4:c.2196_2197insCCCCCCCCCCCCCCCCCCCCCCG MANE Select	NP_783864.1:p.Ser733ProfsTer?