Canonical Allele Identifier: CA2664666500

Gene: BTD

Linked Data

• gnomAD v4: 3-15602066-C-CTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15602066_15602067insTGT , CM000665.2:g.15602066_15602067insTGT	GRCh38
NC_000003.11:g.15643573_15643574insTGT , CM000665.1:g.15643573_15643574insTGT	GRCh37
NC_000003.10:g.15618577_15618578insTGT	NCBI36
NG_008019.1:g.5319_5320insTGT
NG_008019.2:g.5715_5716insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.-261_-260insTGT	ENSP00000394277.2:n.-261_-260insTGT
ENST00000671928.2:c.-17+172_-17+173insTGT	ENSP00000500069.2:n.-17+172_-17+173insTGT
ENST00000672892.2:c.-17+172_-17+173insTGT	ENSP00000499944.2:n.-17+172_-17+173insTGT
ENST00000303498.10:c.-293+172_-293+173insTGT	ENSP00000306477.6:n.-293+172_-293+173insTGT
ENST00000417015.3:c.-17+172_-17+173insTGT	ENSP00000403775.3:n.-17+172_-17+173insTGT
ENST00000427382.2:c.-17+419_-17+420insTGT	ENSP00000397113.2:n.-17+419_-17+420insTGT
ENST00000437172.6:c.-205+172_-205+173insTGT	ENSP00000400995.2:n.-205+172_-205+173insTGT
ENST00000449107.7:c.-17+296_-17+297insTGT	ENSP00000388212.2:n.-17+296_-17+297insTGT
ENST00000467027.6:n.303_304insTGT
ENST00000643237.3:c.-17+172_-17+173insTGT MANE Select	ENSP00000495254.2:n.-17+172_-17+173insTGT
ENST00000646371.1:c.-293+296_-293+297insTGT	ENSP00000495866.1:n.-293+296_-293+297insTGT
ENST00000672065.1:c.44+172_44+173insTGT	ENSP00000500403.1:n.44+172_44+173insTGT
ENST00000672112.1:c.-139+172_-139+173insTGT	ENSP00000500193.1:n.-139+172_-139+173insTGT
ENST00000672141.1:c.-17+172_-17+173insTGT	ENSP00000500210.1:n.-17+172_-17+173insTGT
ENST00000672336.1:c.-537_-536insTGT	ENSP00000500267.1:n.-537_-536insTGT
ENST00000672427.1:c.-17+172_-17+173insTGT	ENSP00000500131.1:n.-17+172_-17+173insTGT
ENST00000672760.1:c.-17+172_-17+173insTGT	ENSP00000500530.1:n.-17+172_-17+173insTGT
ENST00000672968.1:n.20+296_20+297insTGT
ENST00000673467.1:c.-17+172_-17+173insTGT	ENSP00000500288.1:n.-17+172_-17+173insTGT
ENST00000673620.1:c.-17+296_-17+297insTGT	ENSP00000500325.1:n.-17+296_-17+297insTGT
ENST00000303498.9:c.44+172_44+173insTGT	ENSP00000306477.5:n.44+172_44+173insTGT
ENST00000383778.5:c.-261_-260insTGT	ENSP00000373288.4:n.-261_-260insTGT
ENST00000417015.1:c.*295+172_*295+173insTGT	ENSP00000403775.1:n.*295+172_*295+173insTGT
ENST00000427382.1:c.-17+419_-17+420insTGT	ENSP00000397113.1:n.-17+419_-17+420insTGT
ENST00000436193.5:c.-261_-260insTGT	ENSP00000394277.1:n.-261_-260insTGT
ENST00000437172.5:c.-139+172_-139+173insTGT	ENSP00000400995.1:n.-139+172_-139+173insTGT
ENST00000449107.5:c.50+296_50+297insTGT	ENSP00000388212.1:n.50+296_50+297insTGT
ENST00000467027.5:n.94+172_94+173insTGT
ENST00000471964.5:n.125-71_125-70insTGT
ENST00000480711.1:n.147+172_147+173insTGT
ENST00000494021.1:n.401+296_401+297insTGT
NM_000060.3:c.44+172_44+173insTGT	NP_000051.1:n.44+172_44+173insTGT
NM_001281723.1:c.50+296_50+297insTGT	NP_001268652.1:n.50+296_50+297insTGT
NM_001281724.1:c.-139+172_-139+173insTGT	NP_001268653.1:n.-139+172_-139+173insTGT
NM_001281725.1:c.-261_-260insTGT	NP_001268654.1:n.-261_-260insTGT
NM_001281726.1:c.44+172_44+173insTGT	NP_001268655.1:n.44+172_44+173insTGT
XM_006713314.2:c.-293+172_-293+173insTGT	XP_006713377.1:n.-293+172_-293+173insTGT
XM_011534041.1:c.-190-71_-190-70insTGT	XP_011532343.1:n.-190-71_-190-70insTGT
NM_000060.4:c.44+172_44+173insTGT	NP_000051.1:n.44+172_44+173insTGT
NM_001281723.2:c.50+296_50+297insTGT	NP_001268652.1:n.50+296_50+297insTGT
NM_001281724.2:c.-139+172_-139+173insTGT	NP_001268653.1:n.-139+172_-139+173insTGT
NM_001281725.2:c.-261_-260insTGT	NP_001268654.1:n.-261_-260insTGT
NM_001323582.1:c.-293+172_-293+173insTGT	NP_001310511.1:n.-293+172_-293+173insTGT
XM_011534041.2:c.-190-71_-190-70insTGT	XP_011532343.1:n.-190-71_-190-70insTGT
XM_017007088.1:c.-466-71_-466-70insTGT	XP_016862577.1:n.-466-71_-466-70insTGT
NM_001281723.3:c.-17+296_-17+297insTGT	NP_001268652.2:n.-17+296_-17+297insTGT
NM_001281724.3:c.-205+172_-205+173insTGT	NP_001268653.2:n.-205+172_-205+173insTGT
NM_001370658.1:c.-17+172_-17+173insTGT MANE Select	NP_001357587.1:n.-17+172_-17+173insTGT
NM_001370752.1:c.-17+172_-17+173insTGT	NP_001357681.1:n.-17+172_-17+173insTGT
NM_001370753.1:c.-17+172_-17+173insTGT	NP_001357682.1:n.-17+172_-17+173insTGT
NM_001281726.2:c.-17+172_-17+173insTGT	NP_001268655.2:n.-17+172_-17+173insTGT