Canonical Allele Identifier: CA1347655673

Gene: BTD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601935_15601936delinsAG , CM000665.2:g.15601935_15601936delinsAG	GRCh38
NC_000003.11:g.15643442_15643443delinsAG , CM000665.1:g.15643442_15643443delinsAG	GRCh37
NC_000003.10:g.15618446_15618447delinsAG	NCBI36
NG_008019.1:g.5188_5189delinsAG
NG_008019.2:g.5584_5585delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-17+41_-17+42delinsAG	ENSP00000500069.2:n.-17+41_-17+42delinsAG
ENST00000672892.2:c.-17+41_-17+42delinsAG	ENSP00000499944.2:n.-17+41_-17+42delinsAG
ENST00000303498.10:c.-293+41_-293+42delinsAG	ENSP00000306477.6:n.-293+41_-293+42delinsAG
ENST00000417015.3:c.-17+41_-17+42delinsAG	ENSP00000403775.3:n.-17+41_-17+42delinsAG
ENST00000427382.2:c.-17+288_-17+289delinsAG	ENSP00000397113.2:n.-17+288_-17+289delinsAG
ENST00000437172.6:c.-205+41_-205+42delinsAG	ENSP00000400995.2:n.-205+41_-205+42delinsAG
ENST00000449107.7:c.-17+165_-17+166delinsAG	ENSP00000388212.2:n.-17+165_-17+166delinsAG
ENST00000467027.6:n.172_173delinsAG
ENST00000643237.3:c.-17+41_-17+42delinsAG MANE Select	ENSP00000495254.2:n.-17+41_-17+42delinsAG
ENST00000646371.1:c.-293+165_-293+166delinsAG	ENSP00000495866.1:n.-293+165_-293+166delinsAG
ENST00000672065.1:c.44+41_44+42delinsAG	ENSP00000500403.1:n.44+41_44+42delinsAG
ENST00000672112.1:c.-139+41_-139+42delinsAG	ENSP00000500193.1:n.-139+41_-139+42delinsAG
ENST00000672141.1:c.-17+41_-17+42delinsAG	ENSP00000500210.1:n.-17+41_-17+42delinsAG
ENST00000672336.1:c.-668_-667delinsAG	ENSP00000500267.1:n.-668_-667delinsAG
ENST00000672427.1:c.-17+41_-17+42delinsAG	ENSP00000500131.1:n.-17+41_-17+42delinsAG
ENST00000672760.1:c.-17+41_-17+42delinsAG	ENSP00000500530.1:n.-17+41_-17+42delinsAG
ENST00000672968.1:n.20+165_20+166delinsAG
ENST00000673467.1:c.-17+41_-17+42delinsAG	ENSP00000500288.1:n.-17+41_-17+42delinsAG
ENST00000673620.1:c.-17+165_-17+166delinsAG	ENSP00000500325.1:n.-17+165_-17+166delinsAG
ENST00000303498.9:c.44+41_44+42delinsAG	ENSP00000306477.5:n.44+41_44+42delinsAG
ENST00000417015.1:c.*295+41_*295+42delinsAG	ENSP00000403775.1:n.*295+41_*295+42delinsAG
ENST00000427382.1:c.-17+288_-17+289delinsAG	ENSP00000397113.1:n.-17+288_-17+289delinsAG
ENST00000437172.5:c.-139+41_-139+42delinsAG	ENSP00000400995.1:n.-139+41_-139+42delinsAG
ENST00000449107.5:c.50+165_50+166delinsAG	ENSP00000388212.1:n.50+165_50+166delinsAG
ENST00000467027.5:n.94+41_94+42delinsAG
ENST00000471964.5:n.124+41_124+42delinsAG
ENST00000480711.1:n.147+41_147+42delinsAG
ENST00000494021.1:n.401+165_401+166delinsAG
NM_000060.3:c.44+41_44+42delinsAG	NP_000051.1:n.44+41_44+42delinsAG
NM_001281723.1:c.50+165_50+166delinsAG	NP_001268652.1:n.50+165_50+166delinsAG
NM_001281724.1:c.-139+41_-139+42delinsAG	NP_001268653.1:n.-139+41_-139+42delinsAG
NM_001281726.1:c.44+41_44+42delinsAG	NP_001268655.1:n.44+41_44+42delinsAG
XM_006713314.2:c.-293+41_-293+42delinsAG	XP_006713377.1:n.-293+41_-293+42delinsAG
XM_011534041.1:c.-191+41_-191+42delinsAG	XP_011532343.1:n.-191+41_-191+42delinsAG
NM_000060.4:c.44+41_44+42delinsAG	NP_000051.1:n.44+41_44+42delinsAG
NM_001281723.2:c.50+165_50+166delinsAG	NP_001268652.1:n.50+165_50+166delinsAG
NM_001281724.2:c.-139+41_-139+42delinsAG	NP_001268653.1:n.-139+41_-139+42delinsAG
NM_001323582.1:c.-293+41_-293+42delinsAG	NP_001310511.1:n.-293+41_-293+42delinsAG
XM_011534041.2:c.-191+41_-191+42delinsAG	XP_011532343.1:n.-191+41_-191+42delinsAG
XM_017007088.1:c.-467+41_-467+42delinsAG	XP_016862577.1:n.-467+41_-467+42delinsAG
NM_001281723.3:c.-17+165_-17+166delinsAG	NP_001268652.2:n.-17+165_-17+166delinsAG
NM_001281724.3:c.-205+41_-205+42delinsAG	NP_001268653.2:n.-205+41_-205+42delinsAG
NM_001370658.1:c.-17+41_-17+42delinsAG MANE Select	NP_001357587.1:n.-17+41_-17+42delinsAG
NM_001370752.1:c.-17+41_-17+42delinsAG	NP_001357681.1:n.-17+41_-17+42delinsAG
NM_001370753.1:c.-17+41_-17+42delinsAG	NP_001357682.1:n.-17+41_-17+42delinsAG
NM_001281726.2:c.-17+41_-17+42delinsAG	NP_001268655.2:n.-17+41_-17+42delinsAG