Canonical Allele Identifier: CA2664667120

Gene: BTD

Linked Data

• gnomAD v4: 3-15644252-AGCCTCCCACAGTGCTGGGATTACAGGCAAAAACCTCATTTATTTACACCTTTTTTTCCTCTAGGTGCTCCAGCGCCTGAGTTGTATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15644256_15644342del , CM000665.2:g.15644256_15644342del	GRCh38
NC_000003.11:g.15685763_15685849del , CM000665.1:g.15685763_15685849del	GRCh37
NC_000003.10:g.15660767_15660853del	NCBI36
NG_008019.1:g.47509_47595del
NG_008019.2:g.47905_47991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.400-60_426del
ENST00000671928.2:c.399+2199_399+2285del	ENSP00000500069.2:n.399+2199_399+2285del
ENST00000672892.2:c.400-60_426del
ENST00000303498.10:c.400-60_426del
ENST00000427382.2:c.400-60_426del
ENST00000437172.6:c.400-60_426del
ENST00000449107.7:c.400-60_426del
ENST00000643237.3:c.400-60_426del
ENST00000646371.1:c.400-60_426del
ENST00000671928.1:c.165+2199_165+2285del	ENSP00000500069.1:n.165+2199_165+2285del
ENST00000672065.1:c.460-60_486del
ENST00000672112.1:c.466-60_492del
ENST00000672141.1:c.399+2199_399+2285del	ENSP00000500210.1:n.399+2199_399+2285del
ENST00000672427.1:c.400-60_426del
ENST00000672760.1:c.399+2199_399+2285del	ENSP00000500530.1:n.399+2199_399+2285del
ENST00000672892.1:c.178-60_204del
ENST00000673467.1:c.399+2199_399+2285del	ENSP00000500288.1:n.399+2199_399+2285del
ENST00000673620.1:c.399+2199_399+2285del	ENSP00000500325.1:n.399+2199_399+2285del
ENST00000303498.9:c.460-60_486del
ENST00000383778.5:c.400-60_426del
ENST00000436193.5:c.400-60_426del
ENST00000437172.5:c.466-60_492del
ENST00000449107.5:c.466-60_492del
NM_000060.3:c.460-60_486del
NM_001281723.1:c.466-60_492del
NM_001281724.1:c.466-60_492del
NM_001281725.1:c.400-60_426del
XM_006713314.2:c.400-60_426del
XM_011534041.1:c.400-60_426del
NM_000060.4:c.460-60_486del
NM_001281723.2:c.466-60_492del
NM_001281724.2:c.466-60_492del
NM_001281725.2:c.400-60_426del
NM_001323582.1:c.400-60_426del
XM_011534041.2:c.400-60_426del
XM_017007088.1:c.400-60_426del
XM_024453724.1:c.400-60_426del
NM_001281723.3:c.400-60_426del
NM_001281724.3:c.400-60_426del
NM_001370658.1:c.400-60_426del
NM_001370752.1:c.400-60_426del
NM_001370753.1:c.399+2199_399+2285del	NP_001357682.1:n.399+2199_399+2285del
NM_001281726.2:c.*2118_*2204del	NP_001268655.2:n.*2118_*2204del