Canonical Allele Identifier: CA1953275989

Gene: BTBD10

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13388160_13388165delinsTAAGGG , CM000673.2:g.13388160_13388165delinsTAAGGG	GRCh38
NC_000011.9:g.13409707_13409712delinsTAAGGG , CM000673.1:g.13409707_13409712delinsTAAGGG	GRCh37
NC_000011.8:g.13366283_13366288delinsTAAGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278174.10:c.*666_*671delinsCCCTTA MANE Select	ENSP00000278174.5:n.*666_*671delinsCCCTTA
ENST00000278174.9:c.*666_*671delinsCCCTTA	ENSP00000278174.5:n.*666_*671delinsCCCTTA
ENST00000527102.6:c.*1396_*1401delinsCCCTTA	ENSP00000435303.2:n.*1396_*1401delinsCCCTTA
NM_001297741.1:c.*666_*671delinsCCCTTA	NP_001284670.1:n.*666_*671delinsCCCTTA
NM_001297742.1:c.*666_*671delinsCCCTTA	NP_001284671.1:n.*666_*671delinsCCCTTA
NM_032320.6:c.*666_*671delinsCCCTTA	NP_115696.2:n.*666_*671delinsCCCTTA
XM_011520404.1:c.*666_*671delinsCCCTTA	XP_011518706.1:n.*666_*671delinsCCCTTA
XM_017018405.1:c.*666_*671delinsCCCTTA	XP_016873894.1:n.*666_*671delinsCCCTTA
XM_017018406.2:c.*666_*671delinsCCCTTA	XP_016873895.1:n.*666_*671delinsCCCTTA
XM_017018409.1:c.*666_*671delinsCCCTTA	XP_016873898.1:n.*666_*671delinsCCCTTA
XM_017018410.1:c.*666_*671delinsCCCTTA	XP_016873899.1:n.*666_*671delinsCCCTTA
XM_017018411.1:c.*666_*671delinsCCCTTA	XP_016873900.1:n.*666_*671delinsCCCTTA
XM_024448712.1:c.*666_*671delinsCCCTTA	XP_024304480.1:n.*666_*671delinsCCCTTA
XM_024448713.1:c.*666_*671delinsCCCTTA	XP_024304481.1:n.*666_*671delinsCCCTTA
XR_001748000.2:n.3455_3460delinsCCCTTA
XR_001748001.2:n.2435_2440delinsCCCTTA
XR_001748002.2:n.2290_2295delinsCCCTTA
NM_001297741.2:c.*666_*671delinsCCCTTA	NP_001284670.1:n.*666_*671delinsCCCTTA
NM_001297742.2:c.*666_*671delinsCCCTTA	NP_001284671.1:n.*666_*671delinsCCCTTA
NM_032320.7:c.*666_*671delinsCCCTTA MANE Select	NP_115696.2:n.*666_*671delinsCCCTTA