Canonical Allele Identifier: CA2174160765

Gene: BLOC1S6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45603115_45603120delinsATTGTT , CM000677.2:g.45603115_45603120delinsATTGTT	GRCh38
NC_000015.9:g.45895313_45895318delinsATTGTT , CM000677.1:g.45895313_45895318delinsATTGTT	GRCh37
NC_000015.8:g.43682605_43682610delinsATTGTT	NCBI36
NG_028194.2:g.20897_20902delinsATTGTT , LRG_883:g.20897_20902delinsATTGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000220531.9:c.240_245delinsATTGTT MANE Select	ENSP00000220531.4:p.Val80=
ENST00000564310.2:c.169_174delinsATTGTT
ENST00000565323.6:c.255_260delinsATTGTT	ENSP00000456851.1:p.Val85=
ENST00000672455.1:c.*233_*238delinsATTGTT	ENSP00000500302.1:n.*233_*238delinsATTGTT...
ENST00000220531.7:c.240_245delinsATTGTT	ENSP00000220531.3:p.Val80=
ENST00000562384.5:c.-52_-47delinsATTGTT	ENSP00000457077.1:n.-52_-47delinsATTGTT
ENST00000563000.5:n.238-2313_238-2308delinsATTGTT
ENST00000563160.5:n.194-2313_194-2308delinsATTGTT
ENST00000564080.1:c.-18+15590_-18+15595delinsATTGTT	ENSP00000455047.1:n.-18+15590_-18+15595de...
ENST00000564310.1:c.165_170delinsATTGTT
ENST00000564765.1:c.-52_-47delinsATTGTT	ENSP00000454537.1:n.-52_-47delinsATTGTT
ENST00000565216.5:c.117_122delinsATTGTT	ENSP00000456067.1:p.Val39=
ENST00000565323.5:c.255_260delinsATTGTT	ENSP00000456851.1:p.Val85=
ENST00000565409.5:c.-52_-47delinsATTGTT	ENSP00000455599.1:n.-52_-47delinsATTGTT
ENST00000565727.5:n.106-2313_106-2308delinsATTGTT
ENST00000566184.1:n.148-2313_148-2308delinsATTGTT
ENST00000566801.5:c.-52_-47delinsATTGTT	ENSP00000454715.1:n.-52_-47delinsATTGTT
ENST00000567461.5:c.-52_-47delinsATTGTT	ENSP00000456152.1:n.-52_-47delinsATTGTT
ENST00000567523.5:c.236_241delinsATTGTT	ENSP00000456624.1:p.Tyr79=
ENST00000567740.5:n.313-2313_313-2308delinsATTGTT
ENST00000568597.5:c.225-2313_225-2308delinsATTGTT	ENSP00000454638.1:n.225-2313_225-2308deli...
ENST00000568816.5:c.-52_-47delinsATTGTT	ENSP00000455021.1:n.-52_-47delinsATTGTT
ENST00000568963.5:c.94_99delinsATTGTT	ENSP00000454438.1:p.Ile32=
ENST00000569076.5:c.90_95delinsATTGTT	ENSP00000454803.1:p.Val30=
NM_001311255.1:c.255_260delinsATTGTT	NP_001298184.1:p.Val85=
NM_001311256.1:c.240-2313_240-2308delinsATTGTT	NP_001298185.1:n.240-2313_240-2308delinsA...
NM_012388.2:c.240_245delinsATTGTT	NP_036520.1:p.Val80=
NM_012388.3:c.240_245delinsATTGTT , LRG_883t1:c.240_245delinsATTGTT	NP_036520.1:p.Val80=
NR_132350.1:n.569_574delinsATTGTT
NR_132351.1:n.557_562delinsATTGTT
NR_132352.1:n.546-2313_546-2308delinsATTGTT
NR_132353.1:n.419_424delinsATTGTT
NR_132354.1:n.415_420delinsATTGTT
NR_132355.1:n.404-2313_404-2308delinsATTGTT
NR_132356.1:n.263_268delinsATTGTT
NR_132357.1:n.263_268delinsATTGTT
NR_132358.1:n.238-2313_238-2308delinsATTGTT
NR_132359.1:n.106-2313_106-2308delinsATTGTT
NM_012388.4:c.240_245delinsATTGTT MANE Select	NP_036520.1:p.Val80=
NR_132351.2:n.301_306delinsATTGTT
NR_132352.2:n.290-2313_290-2308delinsATTGTT
NR_132355.2:n.148-2313_148-2308delinsATTGTT
NR_132356.2:n.263_268delinsATTGTT
NR_132357.2:n.263_268delinsATTGTT
NR_132359.2:n.106-2313_106-2308delinsATTGTT