Canonical Allele Identifier: CA597621375

Gene: BTBD10

Linked Data

• dbSNP Id: rs1179544210
• gnomAD v2: 11-13409695-CTG-C
• gnomAD v3: 11-13388148-CTG-C
• gnomAD v4: 11-13388148-CTG-C
• MyVariant Identifiers: chr11:g.13409696_13409697del (hg19) ; chr11:g.13388149_13388150del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13388151_13388152del , CM000673.2:g.13388151_13388152del	GRCh38
NC_000011.9:g.13409698_13409699del , CM000673.1:g.13409698_13409699del	GRCh37
NC_000011.8:g.13366274_13366275del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278174.10:c.*681_*682del MANE Select	ENSP00000278174.5:n.*681_*682del
ENST00000278174.9:c.*681_*682del	ENSP00000278174.5:n.*681_*682del
ENST00000527102.6:c.*1411_*1412del	ENSP00000435303.2:n.*1411_*1412del
NM_001297741.1:c.*681_*682del	NP_001284670.1:n.*681_*682del
NM_001297742.1:c.*681_*682del	NP_001284671.1:n.*681_*682del
NM_032320.6:c.*681_*682del	NP_115696.2:n.*681_*682del
XM_011520404.1:c.*681_*682del	XP_011518706.1:n.*681_*682del
XM_017018405.1:c.*681_*682del	XP_016873894.1:n.*681_*682del
XM_017018406.2:c.*681_*682del	XP_016873895.1:n.*681_*682del
XM_017018409.1:c.*681_*682del	XP_016873898.1:n.*681_*682del
XM_017018410.1:c.*681_*682del	XP_016873899.1:n.*681_*682del
XM_017018411.1:c.*681_*682del	XP_016873900.1:n.*681_*682del
XM_024448712.1:c.*681_*682del	XP_024304480.1:n.*681_*682del
XM_024448713.1:c.*681_*682del	XP_024304481.1:n.*681_*682del
XR_001748000.2:n.3470_3471del
XR_001748001.2:n.2450_2451del
XR_001748002.2:n.2305_2306del
NM_001297741.2:c.*681_*682del	NP_001284670.1:n.*681_*682del
NM_001297742.2:c.*681_*682del	NP_001284671.1:n.*681_*682del
NM_032320.7:c.*681_*682del MANE Select	NP_115696.2:n.*681_*682del