Canonical Allele Identifier: CA2577522622

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601802_15601803del , CM000665.2:g.15601802_15601803del	GRCh38
NC_000003.11:g.15643309_15643310del , CM000665.1:g.15643309_15643310del	GRCh37
NC_000003.10:g.15618313_15618314del	NCBI36
NG_008019.1:g.5055_5056del
NG_008019.2:g.5451_5452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-109_-108del (BTD)	ENSP00000500069.2:n.-109_-108del
ENST00000672892.2:c.-109_-108del (BTD)	ENSP00000499944.2:n.-109_-108del
ENST00000303498.10:c.-385_-384del (BTD)	ENSP00000306477.6:n.-385_-384del
ENST00000417015.3:c.-109_-108del (BTD)	ENSP00000403775.3:n.-109_-108del
ENST00000427382.2:c.-17+155_-17+156del (BTD)	ENSP00000397113.2:n.-17+155_-17+156del
ENST00000437172.6:c.-297_-296del (BTD)	ENSP00000400995.2:n.-297_-296del
ENST00000449107.7:c.-17+32_-17+33del (BTD)	ENSP00000388212.2:n.-17+32_-17+33del
ENST00000467027.6:n.39_40del (BTD)
ENST00000643237.3:c.-109_-108del (BTD) MANE Select	ENSP00000495254.2:n.-109_-108del
ENST00000646371.1:c.-293+32_-293+33del (BTD)	ENSP00000495866.1:n.-293+32_-293+33del
ENST00000672065.1:c.-49_-48del (BTD)	ENSP00000500403.1:n.-49_-48del
ENST00000672112.1:c.-231_-230del (BTD)	ENSP00000500193.1:n.-231_-230del
ENST00000672141.1:c.-109_-108del (BTD)	ENSP00000500210.1:n.-109_-108del
ENST00000672336.1:c.-801_-800del (BTD)	ENSP00000500267.1:n.-801_-800del
ENST00000672427.1:c.-109_-108del (BTD)	ENSP00000500131.1:n.-109_-108del
ENST00000672760.1:c.-109_-108del (BTD)	ENSP00000500530.1:n.-109_-108del
ENST00000672968.1:n.20+32_20+33del (BTD)
ENST00000673467.1:c.-109_-108del (BTD)	ENSP00000500288.1:n.-109_-108del
ENST00000673620.1:c.-17+32_-17+33del (BTD)	ENSP00000500325.1:n.-17+32_-17+33del
ENST00000303498.9:c.-49_-48del (BTD)	ENSP00000306477.5:n.-49_-48del
ENST00000321169.9:c.-340_-339del (HACL1)	ENSP00000323811.5:n.-340_-339del
ENST00000417015.1:c.*203_*204del (BTD)	ENSP00000403775.1:n.*203_*204del
ENST00000427382.1:c.-17+155_-17+156del (BTD)	ENSP00000397113.1:n.-17+155_-17+156del
ENST00000437172.5:c.-231_-230del (BTD)	ENSP00000400995.1:n.-231_-230del
ENST00000449107.5:c.50+32_50+33del (BTD)	ENSP00000388212.1:n.50+32_50+33del
ENST00000467027.5:n.2_3del (BTD)
ENST00000471964.5:n.32_33del (BTD)
ENST00000480711.1:n.55_56del (BTD)
ENST00000494021.1:n.401+32_401+33del (BTD)
ENST00000628377.2:c.-340_-339del (HACL1)	ENSP00000486684.1:n.-340_-339del
NM_000060.3:c.-49_-48del (BTD)	NP_000051.1:n.-49_-48del
NM_001281723.1:c.50+32_50+33del (BTD)	NP_001268652.1:n.50+32_50+33del
NM_001281724.1:c.-231_-230del (BTD)	NP_001268653.1:n.-231_-230del
NM_001281726.1:c.-49_-48del (BTD)	NP_001268655.1:n.-49_-48del
NM_001284413.1:c.-340_-339del (HACL1)	NP_001271342.1:n.-340_-339del
NM_001284415.1:c.-340_-339del (HACL1)	NP_001271344.1:n.-340_-339del
NM_001284416.1:c.-340_-339del (HACL1)	NP_001271345.1:n.-340_-339del
NM_012260.3:c.-340_-339del (HACL1)	NP_036392.2:n.-340_-339del
NR_104315.1:n.50_51del (HACL1)
XM_006713314.2:c.-385_-384del (BTD)	XP_006713377.1:n.-385_-384del
XM_011534041.1:c.-283_-282del (BTD)	XP_011532343.1:n.-283_-282del
NM_000060.4:c.-49_-48del (BTD)	NP_000051.1:n.-49_-48del
NM_001281723.2:c.50+32_50+33del (BTD)	NP_001268652.1:n.50+32_50+33del
NM_001281724.2:c.-231_-230del (BTD)	NP_001268653.1:n.-231_-230del
NM_001323582.1:c.-385_-384del (BTD)	NP_001310511.1:n.-385_-384del
XM_011534041.2:c.-283_-282del (BTD)	XP_011532343.1:n.-283_-282del
XM_017007088.1:c.-559_-558del (BTD)	XP_016862577.1:n.-559_-558del
NM_001281723.3:c.-17+32_-17+33del (BTD)	NP_001268652.2:n.-17+32_-17+33del
NM_001281724.3:c.-297_-296del (BTD)	NP_001268653.2:n.-297_-296del
NM_001370658.1:c.-109_-108del (BTD) MANE Select	NP_001357587.1:n.-109_-108del
NM_001370752.1:c.-109_-108del (BTD)	NP_001357681.1:n.-109_-108del
NM_001370753.1:c.-109_-108del (BTD)	NP_001357682.1:n.-109_-108del
NM_001281726.2:c.-109_-108del (BTD)	NP_001268655.2:n.-109_-108del