Canonical Allele Identifier: CA2573150901
Gene: BLOC1S6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45605447_45605448del , CM000677.2:g.45605447_45605448del GRCh38
NC_000015.9:g.45897645_45897646del , CM000677.1:g.45897645_45897646del GRCh37
NC_000015.8:g.43684937_43684938del NCBI36
NG_028194.2:g.23229_23230del , LRG_883:g.23229_23230del

Transcript Alleles

HGVS Amino-acid Change
NM_012388.4:c.332_333del MANE Select NP_036520.1:p.Tyr111SerfsTer16
ENST00000220531.9:c.332_333del MANE Select ENSP00000220531.4:p.Tyr111SerfsTer16
NM_001311255.1:c.347_348del NP_001298184.1:p.Tyr116SerfsTer16
NM_001311256.1:c.259_260del NP_001298185.1:p.Ile87HisfsTer?
NM_012388.2:c.332_333del NP_036520.1:p.Tyr111SerfsTer16
NM_012388.3:c.332_333del , LRG_883t1:c.332_333del NP_036520.1:p.Tyr111SerfsTer16
NR_132350.1:n.661_662del
NR_132351.1:n.649_650del
NR_132351.2:n.393_394del
NR_132352.1:n.565_566del
NR_132352.2:n.309_310del
NR_132353.1:n.511_512del
NR_132354.1:n.507_508del
NR_132355.1:n.423_424del
NR_132355.2:n.167_168del
NR_132356.1:n.355_356del
NR_132356.2:n.355_356del
NR_132357.1:n.336-948_336-947del
NR_132357.2:n.336-948_336-947del
NR_132358.1:n.257_258del
NR_132359.1:n.125_126del
NR_132359.2:n.125_126del
ENST00000220531.7:c.332_333del ENSP00000220531.3:p.Tyr111SerfsTer16
ENST00000562384.5:c.41_42del ENSP00000457077.1:p.Tyr14SerfsTer16
ENST00000563000.5:n.257_258del
ENST00000563160.5:n.213_214del
ENST00000564080.1:c.-18+17922_-18+17923del ENSP00000455047.1:n.-18+17922_-18+17923del
ENST00000564310.1:c.257_258del
ENST00000564310.2:c.261_262del
ENST00000564765.1:c.22-948_22-947del ENSP00000454537.1:n.22-948_22-947del
ENST00000565216.5:c.209_210del ENSP00000456067.1:p.Tyr70SerfsTer16
ENST00000565323.5:c.347_348del ENSP00000456851.1:p.Tyr116SerfsTer16
ENST00000565323.6:c.347_348del ENSP00000456851.1:p.Tyr116SerfsTer16
ENST00000565409.5:c.41_42del ENSP00000455599.1:p.Tyr14SerfsTer16
ENST00000565727.5:n.125_126del
ENST00000566184.1:n.167_168del
ENST00000566801.5:c.41_42del ENSP00000454715.1:p.Tyr14SerfsTer?
ENST00000567461.5:c.41_42del ENSP00000456152.1:p.Tyr14SerfsTer16
ENST00000567523.5:c.*85_*86del ENSP00000456624.1:n.*85_*86del
ENST00000567740.5:n.332_333del
ENST00000568597.5:c.244_245del ENSP00000454638.1:p.Ile82HisfsTer?
ENST00000568816.5:c.41_42del ENSP00000455021.1:p.Tyr14SerfsTer16
ENST00000568963.5:c.*54_*55del ENSP00000454438.1:n.*54_*55del
ENST00000569076.5:c.182_183del ENSP00000454803.1:p.Tyr61SerfsTer16