Canonical Allele Identifier: CA1977558627

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950427_61950437delinsTGTGAGTACAA , CM000673.2:g.61950427_61950437delinsTGTGAGTACAA	GRCh38
NC_000011.9:g.61717899_61717909delinsTGTGAGTACAA , CM000673.1:g.61717899_61717909delinsTGTGAGTACAA	GRCh37
NC_000011.8:g.61474475_61474485delinsTGTGAGTACAA	NCBI36
NG_009033.1:g.5544_5554delinsTGTGAGTACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.-37_-37+10delinsTGTGAGTACAA
ENST00000378043.8:c.-37_-37+10delinsTGTGAGTACAA
ENST00000449131.6:c.-29_-29+10delinsTGTGAGTACAA
ENST00000524877.5:n.68_68+10delinsTGTGAGTACAA
ENST00000524926.5:c.-37_-37+10delinsTGTGAGTACAA
ENST00000529265.5:n.75_75+10delinsTGTGAGTACAA
ENST00000533521.5:n.72_72+10delinsTGTGAGTACAA
ENST00000534553.5:c.-212_-212+10delinsTGTGAGTACAA
NM_001139443.1:c.-29_-29+10delinsTGTGAGTACAA
NM_001300786.1:c.-29_-29+10delinsTGTGAGTACAA
NM_001300787.1:c.-29_-29+10delinsTGTGAGTACAA
NM_004183.3:c.-37_-37+10delinsTGTGAGTACAA
XM_005274210.2:c.-37_-37+10delinsTGTGAGTACAA
XM_005274216.2:c.-29_-29+10delinsTGTGAGTACAA
XM_005274218.3:c.-212_-212+10delinsTGTGAGTACAA
XM_005274219.2:c.-37_-37+10delinsTGTGAGTACAA
XM_005274221.2:c.-37_-37+10delinsTGTGAGTACAA
XM_011545229.1:c.-36-1344_-36-1334delinsTGTGAGTACAA	XP_011543531.1:n.-36-1344_-36-1334delinsTGTGAGTACAA
XM_011545230.1:c.59+3612_59+3622delinsTGTGAGTACAA	XP_011543532.1:n.59+3612_59+3622delinsTGTGAGTACAA
XM_011545231.1:c.-212_-212+10delinsTGTGAGTACAA
XM_011545232.1:c.-37_-37+10delinsTGTGAGTACAA
NM_001363592.1:c.-37_-37+10delinsTGTGAGTACAA
NR_134580.1:n.544_544+10delinsTGTGAGTACAA
XM_005274210.4:c.-37_-37+10delinsTGTGAGTACAA
XM_005274216.4:c.-29_-29+10delinsTGTGAGTACAA
XM_005274219.4:c.-37_-37+10delinsTGTGAGTACAA
XM_005274221.4:c.-37_-37+10delinsTGTGAGTACAA
XM_011545229.3:c.-36-1344_-36-1334delinsTGTGAGTACAA	XP_011543531.1:n.-36-1344_-36-1334delinsTGTGAGTACAA
XM_011545230.3:c.59+3612_59+3622delinsTGTGAGTACAA	XP_011543532.1:n.59+3612_59+3622delinsTGTGAGTACAA
XR_001747952.2:n.650_650+10delinsTGTGAGTACAA
XR_001747953.2:n.654_654+10delinsTGTGAGTACAA
XR_001747954.2:n.654_654+10delinsTGTGAGTACAA
NM_004183.4:c.-37_-37+10delinsTGTGAGTACAA
NM_001139443.2:c.-29_-29+10delinsTGTGAGTACAA
NM_001300786.2:c.-29_-29+10delinsTGTGAGTACAA
NM_001300787.2:c.-29_-29+10delinsTGTGAGTACAA
NR_134580.2:n.77_77+10delinsTGTGAGTACAA