Canonical Allele Identifier: CA2277215

Gene: BTD

Linked Data

• dbSNP Id: rs754199021
• ExAC: 3:15643439 G / GTCCT
• gnomAD v2: 3-15643439-G-GTCCT
• gnomAD v3: 3-15601932-G-GTCCT
• gnomAD v4: 3-15601932-G-GTCCT
• MyVariant Identifiers: chr3:g.15643439_15643440insTCCT (hg19) ; chr3:g.15601932_15601933insTCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601933_15601934insCCTT , CM000665.2:g.15601933_15601934insCCTT	GRCh38
NC_000003.11:g.15643440_15643441insCCTT , CM000665.1:g.15643440_15643441insCCTT	GRCh37
NC_000003.10:g.15618444_15618445insCCTT	NCBI36
NG_008019.1:g.5186_5187insCCTT
NG_008019.2:g.5582_5583insCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-17+39_-17+40insCCTT	ENSP00000500069.2:n.-17+39_-17+40insCCTT
ENST00000672892.2:c.-17+39_-17+40insCCTT	ENSP00000499944.2:n.-17+39_-17+40insCCTT
ENST00000303498.10:c.-293+39_-293+40insCCTT	ENSP00000306477.6:n.-293+39_-293+40insCCTT
ENST00000417015.3:c.-17+39_-17+40insCCTT	ENSP00000403775.3:n.-17+39_-17+40insCCTT
ENST00000427382.2:c.-17+286_-17+287insCCTT	ENSP00000397113.2:n.-17+286_-17+287insCCTT
ENST00000437172.6:c.-205+39_-205+40insCCTT	ENSP00000400995.2:n.-205+39_-205+40insCCTT
ENST00000449107.7:c.-17+163_-17+164insCCTT	ENSP00000388212.2:n.-17+163_-17+164insCCTT
ENST00000467027.6:n.170_171insCCTT
ENST00000643237.3:c.-17+39_-17+40insCCTT MANE Select	ENSP00000495254.2:n.-17+39_-17+40insCCTT
ENST00000646371.1:c.-293+163_-293+164insCCTT	ENSP00000495866.1:n.-293+163_-293+164insCCTT
ENST00000672065.1:c.44+39_44+40insCCTT	ENSP00000500403.1:n.44+39_44+40insCCTT
ENST00000672112.1:c.-139+39_-139+40insCCTT	ENSP00000500193.1:n.-139+39_-139+40insCCTT
ENST00000672141.1:c.-17+39_-17+40insCCTT	ENSP00000500210.1:n.-17+39_-17+40insCCTT
ENST00000672336.1:c.-670_-669insCCTT	ENSP00000500267.1:n.-670_-669insCCTT
ENST00000672427.1:c.-17+39_-17+40insCCTT	ENSP00000500131.1:n.-17+39_-17+40insCCTT
ENST00000672760.1:c.-17+39_-17+40insCCTT	ENSP00000500530.1:n.-17+39_-17+40insCCTT
ENST00000672968.1:n.20+163_20+164insCCTT
ENST00000673467.1:c.-17+39_-17+40insCCTT	ENSP00000500288.1:n.-17+39_-17+40insCCTT
ENST00000673620.1:c.-17+163_-17+164insCCTT	ENSP00000500325.1:n.-17+163_-17+164insCCTT
ENST00000303498.9:c.44+39_44+40insCCTT	ENSP00000306477.5:n.44+39_44+40insCCTT
ENST00000417015.1:c.*295+39_*295+40insCCTT	ENSP00000403775.1:n.*295+39_*295+40insCCTT
ENST00000427382.1:c.-17+286_-17+287insCCTT	ENSP00000397113.1:n.-17+286_-17+287insCCTT
ENST00000437172.5:c.-139+39_-139+40insCCTT	ENSP00000400995.1:n.-139+39_-139+40insCCTT
ENST00000449107.5:c.50+163_50+164insCCTT	ENSP00000388212.1:n.50+163_50+164insCCTT
ENST00000467027.5:n.94+39_94+40insCCTT
ENST00000471964.5:n.124+39_124+40insCCTT
ENST00000480711.1:n.147+39_147+40insCCTT
ENST00000494021.1:n.401+163_401+164insCCTT
NM_000060.3:c.44+39_44+40insCCTT	NP_000051.1:n.44+39_44+40insCCTT
NM_001281723.1:c.50+163_50+164insCCTT	NP_001268652.1:n.50+163_50+164insCCTT
NM_001281724.1:c.-139+39_-139+40insCCTT	NP_001268653.1:n.-139+39_-139+40insCCTT
NM_001281726.1:c.44+39_44+40insCCTT	NP_001268655.1:n.44+39_44+40insCCTT
XM_006713314.2:c.-293+39_-293+40insCCTT	XP_006713377.1:n.-293+39_-293+40insCCTT
XM_011534041.1:c.-191+39_-191+40insCCTT	XP_011532343.1:n.-191+39_-191+40insCCTT
NM_000060.4:c.44+39_44+40insCCTT	NP_000051.1:n.44+39_44+40insCCTT
NM_001281723.2:c.50+163_50+164insCCTT	NP_001268652.1:n.50+163_50+164insCCTT
NM_001281724.2:c.-139+39_-139+40insCCTT	NP_001268653.1:n.-139+39_-139+40insCCTT
NM_001323582.1:c.-293+39_-293+40insCCTT	NP_001310511.1:n.-293+39_-293+40insCCTT
XM_011534041.2:c.-191+39_-191+40insCCTT	XP_011532343.1:n.-191+39_-191+40insCCTT
XM_017007088.1:c.-467+39_-467+40insCCTT	XP_016862577.1:n.-467+39_-467+40insCCTT
NM_001281723.3:c.-17+163_-17+164insCCTT	NP_001268652.2:n.-17+163_-17+164insCCTT
NM_001281724.3:c.-205+39_-205+40insCCTT	NP_001268653.2:n.-205+39_-205+40insCCTT
NM_001370658.1:c.-17+39_-17+40insCCTT MANE Select	NP_001357587.1:n.-17+39_-17+40insCCTT
NM_001370752.1:c.-17+39_-17+40insCCTT	NP_001357681.1:n.-17+39_-17+40insCCTT
NM_001370753.1:c.-17+39_-17+40insCCTT	NP_001357682.1:n.-17+39_-17+40insCCTT
NM_001281726.2:c.-17+39_-17+40insCCTT	NP_001268655.2:n.-17+39_-17+40insCCTT