Canonical Allele Identifier: CA713141790

Gene: BLOC1S6

Linked Data

• dbSNP Id: rs1485419480
• gnomAD v3: 15-45602999-TTAAC-T
• gnomAD v4: 15-45602999-TTAAC-T
• MyVariant Identifiers: chr15:g.45895198_45895201del (hg19) ; chr15:g.45603000_45603003del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45603005_45603008del , CM000677.2:g.45603005_45603008del	GRCh38
NC_000015.9:g.45895203_45895206del , CM000677.1:g.45895203_45895206del	GRCh37
NC_000015.8:g.43682495_43682498del	NCBI36
NG_028194.2:g.20787_20790del , LRG_883:g.20787_20790del

Transcript Alleles

HGVS	Amino-acid change
ENST00000220531.9:c.225-95_225-92del MANE Select	ENSP00000220531.4:n.225-95_225-92del
ENST00000564310.2:c.158-99_158-96del
ENST00000565323.6:c.240-95_240-92del	ENSP00000456851.1:n.240-95_240-92del
ENST00000672455.1:c.*218-95_*218-92del	ENSP00000500302.1:n.*218-95_*218-92del
ENST00000220531.7:c.225-95_225-92del	ENSP00000220531.3:n.225-95_225-92del
ENST00000562384.5:c.-67-95_-67-92del	ENSP00000457077.1:n.-67-95_-67-92del
ENST00000563000.5:n.238-2423_238-2420del
ENST00000563160.5:n.194-2423_194-2420del
ENST00000564080.1:c.-18+15480_-18+15483del	ENSP00000455047.1:n.-18+15480_-18+15483de...
ENST00000564310.1:c.154-99_154-96del
ENST00000564765.1:c.-67-95_-67-92del	ENSP00000454537.1:n.-67-95_-67-92del
ENST00000565216.5:c.102-95_102-92del	ENSP00000456067.1:n.102-95_102-92del
ENST00000565323.5:c.240-95_240-92del	ENSP00000456851.1:n.240-95_240-92del
ENST00000565409.5:c.-67-95_-67-92del	ENSP00000455599.1:n.-67-95_-67-92del
ENST00000565727.5:n.106-2423_106-2420del
ENST00000566184.1:n.148-2423_148-2420del
ENST00000566801.5:c.-67-95_-67-92del	ENSP00000454715.1:n.-67-95_-67-92del
ENST00000567461.5:c.-67-95_-67-92del	ENSP00000456152.1:n.-67-95_-67-92del
ENST00000567523.5:c.225-99_225-96del	ENSP00000456624.1:n.225-99_225-96del
ENST00000567740.5:n.313-2423_313-2420del
ENST00000568597.5:c.225-2423_225-2420del	ENSP00000454638.1:n.225-2423_225-2420del
ENST00000568816.5:c.-67-95_-67-92del	ENSP00000455021.1:n.-67-95_-67-92del
ENST00000568963.5:c.83-99_83-96del	ENSP00000454438.1:n.83-99_83-96del
ENST00000569076.5:c.75-95_75-92del	ENSP00000454803.1:n.75-95_75-92del
NM_001311255.1:c.240-95_240-92del	NP_001298184.1:n.240-95_240-92del
NM_001311256.1:c.240-2423_240-2420del	NP_001298185.1:n.240-2423_240-2420del
NM_012388.2:c.225-95_225-92del	NP_036520.1:n.225-95_225-92del
NM_012388.3:c.225-95_225-92del , LRG_883t1:c.225-95_225-92del	NP_036520.1:n.225-95_225-92del
NR_132350.1:n.554-95_554-92del
NR_132351.1:n.546-99_546-96del
NR_132352.1:n.546-2423_546-2420del
NR_132353.1:n.404-95_404-92del
NR_132354.1:n.404-99_404-96del
NR_132355.1:n.404-2423_404-2420del
NR_132356.1:n.248-95_248-92del
NR_132357.1:n.248-95_248-92del
NR_132358.1:n.238-2423_238-2420del
NR_132359.1:n.106-2423_106-2420del
NM_012388.4:c.225-95_225-92del MANE Select	NP_036520.1:n.225-95_225-92del
NR_132351.2:n.290-99_290-96del
NR_132352.2:n.290-2423_290-2420del
NR_132355.2:n.148-2423_148-2420del
NR_132356.2:n.248-95_248-92del
NR_132357.2:n.248-95_248-92del
NR_132359.2:n.106-2423_106-2420del