Canonical Allele Identifier: CA2628286411

Gene: BLOC1S6

Linked Data

• gnomAD v4: 15-45603038-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45603041_45603042del , CM000677.2:g.45603041_45603042del	GRCh38
NC_000015.9:g.45895239_45895240del , CM000677.1:g.45895239_45895240del	GRCh37
NC_000015.8:g.43682531_43682532del	NCBI36
NG_028194.2:g.20823_20824del , LRG_883:g.20823_20824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000220531.9:c.225-59_225-58del MANE Select	ENSP00000220531.4:n.225-59_225-58del
ENST00000564310.2:c.158-63_158-62del
ENST00000565323.6:c.240-59_240-58del	ENSP00000456851.1:n.240-59_240-58del
ENST00000672455.1:c.*218-59_*218-58del	ENSP00000500302.1:n.*218-59_*218-58del
ENST00000220531.7:c.225-59_225-58del	ENSP00000220531.3:n.225-59_225-58del
ENST00000562384.5:c.-67-59_-67-58del	ENSP00000457077.1:n.-67-59_-67-58del
ENST00000563000.5:n.238-2387_238-2386del
ENST00000563160.5:n.194-2387_194-2386del
ENST00000564080.1:c.-18+15516_-18+15517del	ENSP00000455047.1:n.-18+15516_-18+15517de...
ENST00000564310.1:c.154-63_154-62del
ENST00000564765.1:c.-67-59_-67-58del	ENSP00000454537.1:n.-67-59_-67-58del
ENST00000565216.5:c.102-59_102-58del	ENSP00000456067.1:n.102-59_102-58del
ENST00000565323.5:c.240-59_240-58del	ENSP00000456851.1:n.240-59_240-58del
ENST00000565409.5:c.-67-59_-67-58del	ENSP00000455599.1:n.-67-59_-67-58del
ENST00000565727.5:n.106-2387_106-2386del
ENST00000566184.1:n.148-2387_148-2386del
ENST00000566801.5:c.-67-59_-67-58del	ENSP00000454715.1:n.-67-59_-67-58del
ENST00000567461.5:c.-67-59_-67-58del	ENSP00000456152.1:n.-67-59_-67-58del
ENST00000567523.5:c.225-63_225-62del	ENSP00000456624.1:n.225-63_225-62del
ENST00000567740.5:n.313-2387_313-2386del
ENST00000568597.5:c.225-2387_225-2386del	ENSP00000454638.1:n.225-2387_225-2386del
ENST00000568816.5:c.-67-59_-67-58del	ENSP00000455021.1:n.-67-59_-67-58del
ENST00000568963.5:c.83-63_83-62del	ENSP00000454438.1:n.83-63_83-62del
ENST00000569076.5:c.75-59_75-58del	ENSP00000454803.1:n.75-59_75-58del
NM_001311255.1:c.240-59_240-58del	NP_001298184.1:n.240-59_240-58del
NM_001311256.1:c.240-2387_240-2386del	NP_001298185.1:n.240-2387_240-2386del
NM_012388.2:c.225-59_225-58del	NP_036520.1:n.225-59_225-58del
NM_012388.3:c.225-59_225-58del , LRG_883t1:c.225-59_225-58del	NP_036520.1:n.225-59_225-58del
NR_132350.1:n.554-59_554-58del
NR_132351.1:n.546-63_546-62del
NR_132352.1:n.546-2387_546-2386del
NR_132353.1:n.404-59_404-58del
NR_132354.1:n.404-63_404-62del
NR_132355.1:n.404-2387_404-2386del
NR_132356.1:n.248-59_248-58del
NR_132357.1:n.248-59_248-58del
NR_132358.1:n.238-2387_238-2386del
NR_132359.1:n.106-2387_106-2386del
NM_012388.4:c.225-59_225-58del MANE Select	NP_036520.1:n.225-59_225-58del
NR_132351.2:n.290-63_290-62del
NR_132352.2:n.290-2387_290-2386del
NR_132355.2:n.148-2387_148-2386del
NR_132356.2:n.248-59_248-58del
NR_132357.2:n.248-59_248-58del
NR_132359.2:n.106-2387_106-2386del