Canonical Allele Identifier: CA2174160718
Gene: BLOC1S6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45603007_45603009delinsCTG , CM000677.2:g.45603007_45603009delinsCTG GRCh38
NC_000015.9:g.45895205_45895207delinsCTG , CM000677.1:g.45895205_45895207delinsCTG GRCh37
NC_000015.8:g.43682497_43682499delinsCTG NCBI36
NG_028194.2:g.20789_20791delinsCTG , LRG_883:g.20789_20791delinsCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000220531.9:c.225-93_225-91delinsCTG MANE Select ENSP00000220531.4:n.225-93_225-91delinsCT...
ENST00000564310.2:c.158-97_158-95delinsCTG
ENST00000565323.6:c.240-93_240-91delinsCTG ENSP00000456851.1:n.240-93_240-91delinsCT...
ENST00000672455.1:c.*218-93_*218-91delinsCTG ENSP00000500302.1:n.*218-93_*218-91delins...
ENST00000220531.7:c.225-93_225-91delinsCTG ENSP00000220531.3:n.225-93_225-91delinsCT...
ENST00000562384.5:c.-67-93_-67-91delinsCTG ENSP00000457077.1:n.-67-93_-67-91delinsCT...
ENST00000563000.5:n.238-2421_238-2419delinsCTG
ENST00000563160.5:n.194-2421_194-2419delinsCTG
ENST00000564080.1:c.-18+15482_-18+15484delinsCTG ENSP00000455047.1:n.-18+15482_-18+15484de...
ENST00000564310.1:c.154-97_154-95delinsCTG
ENST00000564765.1:c.-67-93_-67-91delinsCTG ENSP00000454537.1:n.-67-93_-67-91delinsCT...
ENST00000565216.5:c.102-93_102-91delinsCTG ENSP00000456067.1:n.102-93_102-91delinsCT...
ENST00000565323.5:c.240-93_240-91delinsCTG ENSP00000456851.1:n.240-93_240-91delinsCT...
ENST00000565409.5:c.-67-93_-67-91delinsCTG ENSP00000455599.1:n.-67-93_-67-91delinsCT...
ENST00000565727.5:n.106-2421_106-2419delinsCTG
ENST00000566184.1:n.148-2421_148-2419delinsCTG
ENST00000566801.5:c.-67-93_-67-91delinsCTG ENSP00000454715.1:n.-67-93_-67-91delinsCT...
ENST00000567461.5:c.-67-93_-67-91delinsCTG ENSP00000456152.1:n.-67-93_-67-91delinsCT...
ENST00000567523.5:c.225-97_225-95delinsCTG ENSP00000456624.1:n.225-97_225-95delinsCT...
ENST00000567740.5:n.313-2421_313-2419delinsCTG
ENST00000568597.5:c.225-2421_225-2419delinsCTG ENSP00000454638.1:n.225-2421_225-2419deli...
ENST00000568816.5:c.-67-93_-67-91delinsCTG ENSP00000455021.1:n.-67-93_-67-91delinsCT...
ENST00000568963.5:c.83-97_83-95delinsCTG ENSP00000454438.1:n.83-97_83-95delinsCTG
ENST00000569076.5:c.75-93_75-91delinsCTG ENSP00000454803.1:n.75-93_75-91delinsCTG
NM_001311255.1:c.240-93_240-91delinsCTG NP_001298184.1:n.240-93_240-91delinsCTG
NM_001311256.1:c.240-2421_240-2419delinsCTG NP_001298185.1:n.240-2421_240-2419delinsC...
NM_012388.2:c.225-93_225-91delinsCTG NP_036520.1:n.225-93_225-91delinsCTG
NM_012388.3:c.225-93_225-91delinsCTG , LRG_883t1:c.225-93_225-91delinsCTG NP_036520.1:n.225-93_225-91delinsCTG
NR_132350.1:n.554-93_554-91delinsCTG
NR_132351.1:n.546-97_546-95delinsCTG
NR_132352.1:n.546-2421_546-2419delinsCTG
NR_132353.1:n.404-93_404-91delinsCTG
NR_132354.1:n.404-97_404-95delinsCTG
NR_132355.1:n.404-2421_404-2419delinsCTG
NR_132356.1:n.248-93_248-91delinsCTG
NR_132357.1:n.248-93_248-91delinsCTG
NR_132358.1:n.238-2421_238-2419delinsCTG
NR_132359.1:n.106-2421_106-2419delinsCTG
NM_012388.4:c.225-93_225-91delinsCTG MANE Select NP_036520.1:n.225-93_225-91delinsCTG
NR_132351.2:n.290-97_290-95delinsCTG
NR_132352.2:n.290-2421_290-2419delinsCTG
NR_132355.2:n.148-2421_148-2419delinsCTG
NR_132356.2:n.248-93_248-91delinsCTG
NR_132357.2:n.248-93_248-91delinsCTG
NR_132359.2:n.106-2421_106-2419delinsCTG