Canonical Allele Identifier: CA2664666485

Gene: BTD

Linked Data

• gnomAD v4: 3-15602053-G-GCGTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15602054_15602055insGTTTTC , CM000665.2:g.15602054_15602055insGTTTTC	GRCh38
NC_000003.11:g.15643561_15643562insGTTTTC , CM000665.1:g.15643561_15643562insGTTTTC	GRCh37
NC_000003.10:g.15618565_15618566insGTTTTC	NCBI36
NG_008019.1:g.5307_5308insGTTTTC
NG_008019.2:g.5703_5704insGTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.-273_-272insGTTTTC	ENSP00000394277.2:n.-273_-272insGTTTTC
ENST00000671928.2:c.-17+160_-17+161insGTTTTC	ENSP00000500069.2:n.-17+160_-17+161insGTTTTC
ENST00000672892.2:c.-17+160_-17+161insGTTTTC	ENSP00000499944.2:n.-17+160_-17+161insGTTTTC
ENST00000303498.10:c.-293+160_-293+161insGTTTTC	ENSP00000306477.6:n.-293+160_-293+161insGTTTTC
ENST00000417015.3:c.-17+160_-17+161insGTTTTC	ENSP00000403775.3:n.-17+160_-17+161insGTTTTC
ENST00000427382.2:c.-17+407_-17+408insGTTTTC	ENSP00000397113.2:n.-17+407_-17+408insGTTTTC
ENST00000437172.6:c.-205+160_-205+161insGTTTTC	ENSP00000400995.2:n.-205+160_-205+161insGTTTTC
ENST00000449107.7:c.-17+284_-17+285insGTTTTC	ENSP00000388212.2:n.-17+284_-17+285insGTTTTC
ENST00000467027.6:n.291_292insGTTTTC
ENST00000643237.3:c.-17+160_-17+161insGTTTTC MANE Select	ENSP00000495254.2:n.-17+160_-17+161insGTTTTC
ENST00000646371.1:c.-293+284_-293+285insGTTTTC	ENSP00000495866.1:n.-293+284_-293+285insGTTTTC
ENST00000672065.1:c.44+160_44+161insGTTTTC	ENSP00000500403.1:n.44+160_44+161insGTTTTC
ENST00000672112.1:c.-139+160_-139+161insGTTTTC	ENSP00000500193.1:n.-139+160_-139+161insGTTTTC
ENST00000672141.1:c.-17+160_-17+161insGTTTTC	ENSP00000500210.1:n.-17+160_-17+161insGTTTTC
ENST00000672336.1:c.-549_-548insGTTTTC	ENSP00000500267.1:n.-549_-548insGTTTTC
ENST00000672427.1:c.-17+160_-17+161insGTTTTC	ENSP00000500131.1:n.-17+160_-17+161insGTTTTC
ENST00000672760.1:c.-17+160_-17+161insGTTTTC	ENSP00000500530.1:n.-17+160_-17+161insGTTTTC
ENST00000672968.1:n.20+284_20+285insGTTTTC
ENST00000673467.1:c.-17+160_-17+161insGTTTTC	ENSP00000500288.1:n.-17+160_-17+161insGTTTTC
ENST00000673620.1:c.-17+284_-17+285insGTTTTC	ENSP00000500325.1:n.-17+284_-17+285insGTTTTC
ENST00000303498.9:c.44+160_44+161insGTTTTC	ENSP00000306477.5:n.44+160_44+161insGTTTTC
ENST00000383778.5:c.-273_-272insGTTTTC	ENSP00000373288.4:n.-273_-272insGTTTTC
ENST00000417015.1:c.*295+160_*295+161insGTTTTC	ENSP00000403775.1:n.*295+160_*295+161insGTTTTC
ENST00000427382.1:c.-17+407_-17+408insGTTTTC	ENSP00000397113.1:n.-17+407_-17+408insGTTTTC
ENST00000436193.5:c.-273_-272insGTTTTC	ENSP00000394277.1:n.-273_-272insGTTTTC
ENST00000437172.5:c.-139+160_-139+161insGTTTTC	ENSP00000400995.1:n.-139+160_-139+161insGTTTTC
ENST00000449107.5:c.50+284_50+285insGTTTTC	ENSP00000388212.1:n.50+284_50+285insGTTTTC
ENST00000467027.5:n.94+160_94+161insGTTTTC
ENST00000471964.5:n.125-83_125-82insGTTTTC
ENST00000480711.1:n.147+160_147+161insGTTTTC
ENST00000494021.1:n.401+284_401+285insGTTTTC
NM_000060.3:c.44+160_44+161insGTTTTC	NP_000051.1:n.44+160_44+161insGTTTTC
NM_001281723.1:c.50+284_50+285insGTTTTC	NP_001268652.1:n.50+284_50+285insGTTTTC
NM_001281724.1:c.-139+160_-139+161insGTTTTC	NP_001268653.1:n.-139+160_-139+161insGTTTTC
NM_001281725.1:c.-273_-272insGTTTTC	NP_001268654.1:n.-273_-272insGTTTTC
NM_001281726.1:c.44+160_44+161insGTTTTC	NP_001268655.1:n.44+160_44+161insGTTTTC
XM_006713314.2:c.-293+160_-293+161insGTTTTC	XP_006713377.1:n.-293+160_-293+161insGTTTTC
XM_011534041.1:c.-190-83_-190-82insGTTTTC	XP_011532343.1:n.-190-83_-190-82insGTTTTC
NM_000060.4:c.44+160_44+161insGTTTTC	NP_000051.1:n.44+160_44+161insGTTTTC
NM_001281723.2:c.50+284_50+285insGTTTTC	NP_001268652.1:n.50+284_50+285insGTTTTC
NM_001281724.2:c.-139+160_-139+161insGTTTTC	NP_001268653.1:n.-139+160_-139+161insGTTTTC
NM_001281725.2:c.-273_-272insGTTTTC	NP_001268654.1:n.-273_-272insGTTTTC
NM_001323582.1:c.-293+160_-293+161insGTTTTC	NP_001310511.1:n.-293+160_-293+161insGTTTTC
XM_011534041.2:c.-190-83_-190-82insGTTTTC	XP_011532343.1:n.-190-83_-190-82insGTTTTC
XM_017007088.1:c.-466-83_-466-82insGTTTTC	XP_016862577.1:n.-466-83_-466-82insGTTTTC
NM_001281723.3:c.-17+284_-17+285insGTTTTC	NP_001268652.2:n.-17+284_-17+285insGTTTTC
NM_001281724.3:c.-205+160_-205+161insGTTTTC	NP_001268653.2:n.-205+160_-205+161insGTTTTC
NM_001370658.1:c.-17+160_-17+161insGTTTTC MANE Select	NP_001357587.1:n.-17+160_-17+161insGTTTTC
NM_001370752.1:c.-17+160_-17+161insGTTTTC	NP_001357681.1:n.-17+160_-17+161insGTTTTC
NM_001370753.1:c.-17+160_-17+161insGTTTTC	NP_001357682.1:n.-17+160_-17+161insGTTTTC
NM_001281726.2:c.-17+160_-17+161insGTTTTC	NP_001268655.2:n.-17+160_-17+161insGTTTTC