Canonical Allele Identifier: CA2664666575

Gene: BTD

Linked Data

• gnomAD v4: 3-15602198-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15602200_15602201del , CM000665.2:g.15602200_15602201del	GRCh38
NC_000003.11:g.15643707_15643708del , CM000665.1:g.15643707_15643708del	GRCh37
NC_000003.10:g.15618711_15618712del	NCBI36
NG_008019.1:g.5453_5454del
NG_008019.2:g.5849_5850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.-127_-126del	ENSP00000394277.2:n.-127_-126del
ENST00000671928.2:c.-17+306_-17+307del	ENSP00000500069.2:n.-17+306_-17+307del
ENST00000672892.2:c.-17+306_-17+307del	ENSP00000499944.2:n.-17+306_-17+307del
ENST00000303498.10:c.-293+306_-293+307del	ENSP00000306477.6:n.-293+306_-293+307del
ENST00000417015.3:c.-17+306_-17+307del	ENSP00000403775.3:n.-17+306_-17+307del
ENST00000427382.2:c.-17+553_-17+554del	ENSP00000397113.2:n.-17+553_-17+554del
ENST00000437172.6:c.-205+306_-205+307del	ENSP00000400995.2:n.-205+306_-205+307del
ENST00000449107.7:c.-17+430_-17+431del	ENSP00000388212.2:n.-17+430_-17+431del
ENST00000467027.6:n.437_438del
ENST00000642517.1:n.63_64del
ENST00000643237.3:c.-17+306_-17+307del MANE Select	ENSP00000495254.2:n.-17+306_-17+307del
ENST00000646371.1:c.-293+430_-293+431del	ENSP00000495866.1:n.-293+430_-293+431del
ENST00000672065.1:c.44+306_44+307del	ENSP00000500403.1:n.44+306_44+307del
ENST00000672112.1:c.-139+306_-139+307del	ENSP00000500193.1:n.-139+306_-139+307del
ENST00000672141.1:c.-17+306_-17+307del	ENSP00000500210.1:n.-17+306_-17+307del
ENST00000672336.1:c.-403_-402del	ENSP00000500267.1:n.-403_-402del
ENST00000672427.1:c.-17+306_-17+307del	ENSP00000500131.1:n.-17+306_-17+307del
ENST00000672760.1:c.-17+306_-17+307del	ENSP00000500530.1:n.-17+306_-17+307del
ENST00000672968.1:n.20+430_20+431del
ENST00000673467.1:c.-17+306_-17+307del	ENSP00000500288.1:n.-17+306_-17+307del
ENST00000673620.1:c.-17+430_-17+431del	ENSP00000500325.1:n.-17+430_-17+431del
ENST00000303498.9:c.44+306_44+307del	ENSP00000306477.5:n.44+306_44+307del
ENST00000383778.5:c.-127_-126del	ENSP00000373288.4:n.-127_-126del
ENST00000417015.1:c.*295+306_*295+307del	ENSP00000403775.1:n.*295+306_*295+307del
ENST00000427382.1:c.-17+553_-17+554del	ENSP00000397113.1:n.-17+553_-17+554del
ENST00000436193.5:c.-127_-126del	ENSP00000394277.1:n.-127_-126del
ENST00000437172.5:c.-139+306_-139+307del	ENSP00000400995.1:n.-139+306_-139+307del
ENST00000449107.5:c.50+430_50+431del	ENSP00000388212.1:n.50+430_50+431del
ENST00000467027.5:n.94+306_94+307del
ENST00000471964.5:n.188_189del
ENST00000480711.1:n.147+306_147+307del
ENST00000494021.1:n.401+430_401+431del
NM_000060.3:c.44+306_44+307del	NP_000051.1:n.44+306_44+307del
NM_001281723.1:c.50+430_50+431del	NP_001268652.1:n.50+430_50+431del
NM_001281724.1:c.-139+306_-139+307del	NP_001268653.1:n.-139+306_-139+307del
NM_001281725.1:c.-127_-126del	NP_001268654.1:n.-127_-126del
NM_001281726.1:c.44+306_44+307del	NP_001268655.1:n.44+306_44+307del
XM_006713314.2:c.-293+306_-293+307del	XP_006713377.1:n.-293+306_-293+307del
XM_011534041.1:c.-127_-126del	XP_011532343.1:n.-127_-126del
NM_000060.4:c.44+306_44+307del	NP_000051.1:n.44+306_44+307del
NM_001281723.2:c.50+430_50+431del	NP_001268652.1:n.50+430_50+431del
NM_001281724.2:c.-139+306_-139+307del	NP_001268653.1:n.-139+306_-139+307del
NM_001281725.2:c.-127_-126del	NP_001268654.1:n.-127_-126del
NM_001323582.1:c.-293+306_-293+307del	NP_001310511.1:n.-293+306_-293+307del
XM_011534041.2:c.-127_-126del	XP_011532343.1:n.-127_-126del
XM_017007088.1:c.-403_-402del	XP_016862577.1:n.-403_-402del
NM_001281723.3:c.-17+430_-17+431del	NP_001268652.2:n.-17+430_-17+431del
NM_001281724.3:c.-205+306_-205+307del	NP_001268653.2:n.-205+306_-205+307del
NM_001370658.1:c.-17+306_-17+307del MANE Select	NP_001357587.1:n.-17+306_-17+307del
NM_001370752.1:c.-17+306_-17+307del	NP_001357681.1:n.-17+306_-17+307del
NM_001370753.1:c.-17+306_-17+307del	NP_001357682.1:n.-17+306_-17+307del
NM_001281726.2:c.-17+306_-17+307del	NP_001268655.2:n.-17+306_-17+307del