Canonical Allele Identifier: CA16040913
Gene: BTD HGNC NCBI

Linked Data

dbSNP Id: rs1057517225
gnomAD v4: 3-15645160-AAG-A
MyVariant Identifiers: chr3:g.15686670_15686671del (hg19) chr3:g.15645163_15645164del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15645163_15645164del , CM000665.2:g.15645163_15645164del GRCh38
NC_000003.11:g.15686670_15686671del , CM000665.1:g.15686670_15686671del GRCh37
NC_000003.10:g.15661674_15661675del NCBI36
NG_008019.1:g.48416_48417del
NG_008019.2:g.48812_48813del

Transcript Alleles

HGVS Amino-acid change
ENST00000436193.6:c.1247_1248del ENSP00000394277.2:p.Glu416AlafsTer8
ENST00000671928.2:c.399+3106_399+3107del ENSP00000500069.2:n.399+3106_399+3107del
ENST00000672892.2:c.1015+232_1015+233del ENSP00000499944.2:n.1015+232_1015+233del
ENST00000303498.10:c.1247_1248del ENSP00000306477.6:p.Glu416AlafsTer8
ENST00000427382.2:c.1247_1248del ENSP00000397113.2:p.Glu416AlafsTer8
ENST00000437172.6:c.1247_1248del ENSP00000400995.2:p.Glu416AlafsTer8
ENST00000449107.7:c.1247_1248del ENSP00000388212.2:p.Glu416AlafsTer8
ENST00000643237.3:c.1247_1248del MANE Select ENSP00000495254.2:p.Glu416AlafsTer8
ENST00000646371.1:c.1247_1248del ENSP00000495866.1:p.Glu416AlafsTer8
ENST00000671928.1:c.165+3106_165+3107del ENSP00000500069.1:n.165+3106_165+3107del
ENST00000672065.1:c.1307_1308del ENSP00000500403.1:p.Glu436AlafsTer8
ENST00000672112.1:c.1313_1314del ENSP00000500193.1:p.Glu438AlafsTer8
ENST00000672141.1:c.399+3106_399+3107del ENSP00000500210.1:n.399+3106_399+3107del
ENST00000672427.1:c.1015+232_1015+233del ENSP00000500131.1:n.1015+232_1015+233del
ENST00000672760.1:c.399+3106_399+3107del ENSP00000500530.1:n.399+3106_399+3107del
ENST00000672892.1:c.793+232_793+233del ENSP00000499944.1:n.793+232_793+233del
ENST00000673467.1:c.399+3106_399+3107del ENSP00000500288.1:n.399+3106_399+3107del
ENST00000673620.1:c.399+3106_399+3107del ENSP00000500325.1:n.399+3106_399+3107del
ENST00000303498.9:c.1307_1308del ENSP00000306477.5:p.Glu436AlafsTer8
ENST00000383778.5:c.1247_1248del ENSP00000373288.4:p.Glu416AlafsTer8
ENST00000437172.5:c.1313_1314del ENSP00000400995.1:p.Glu438AlafsTer8
ENST00000449107.5:c.1313_1314del ENSP00000388212.1:p.Glu438AlafsTer8
NM_000060.3:c.1307_1308del NP_000051.1:p.Glu436AlafsTer8
NM_001281723.1:c.1313_1314del NP_001268652.1:p.Glu438AlafsTer8
NM_001281724.1:c.1313_1314del NP_001268653.1:p.Glu438AlafsTer8
NM_001281725.1:c.1247_1248del NP_001268654.1:p.Glu416AlafsTer8
XM_006713314.2:c.1247_1248del XP_006713377.1:p.Glu416AlafsTer8
XM_011534041.1:c.1247_1248del XP_011532343.1:p.Glu416AlafsTer8
NM_000060.4:c.1307_1308del NP_000051.1:p.Glu436AlafsTer8
NM_001281723.2:c.1313_1314del NP_001268652.1:p.Glu438AlafsTer8
NM_001281724.2:c.1313_1314del NP_001268653.1:p.Glu438AlafsTer8
NM_001281725.2:c.1247_1248del NP_001268654.1:p.Glu416AlafsTer8
NM_001323582.1:c.1247_1248del NP_001310511.1:p.Glu416AlafsTer8
XM_011534041.2:c.1247_1248del XP_011532343.1:p.Glu416AlafsTer8
XM_017007088.1:c.1247_1248del XP_016862577.1:p.Glu416AlafsTer8
XM_024453724.1:c.1247_1248del XP_024309492.1:p.Glu416AlafsTer8
NM_001281723.3:c.1247_1248del NP_001268652.2:p.Glu416AlafsTer8
NM_001281724.3:c.1247_1248del NP_001268653.2:p.Glu416AlafsTer8
NM_001370658.1:c.1247_1248del MANE Select NP_001357587.1:p.Glu416AlafsTer8
NM_001370752.1:c.1015+232_1015+233del NP_001357681.1:n.1015+232_1015+233del
NM_001370753.1:c.399+3106_399+3107del NP_001357682.1:n.399+3106_399+3107del
NM_001281726.2:c.*3025_*3026del NP_001268655.2:n.*3025_*3026del
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