Canonical Allele Identifier: CA2578069610

Gene: KLB

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39446831del , CM000666.2:g.39446831del	GRCh38
NC_000004.11:g.39448451del , CM000666.1:g.39448451del	GRCh37
NC_000004.10:g.39124846del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.2105del MANE Select	ENSP00000257408.4:p.Asn702ThrfsTer?
ENST00000257408.4:c.2105del	ENSP00000257408.4:p.Asn702ThrfsTer?
NM_175737.3:c.2105del	NP_783864.1:p.Asn702ThrfsTer?
XM_005262644.1:c.2078del	XP_005262701.1:p.Asn693ThrfsTer?
NM_175737.4:c.2105del MANE Select	NP_783864.1:p.Asn702ThrfsTer?