Canonical Allele Identifier: CA1977558527

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950205_61950209delinsTGCTA , CM000673.2:g.61950205_61950209delinsTGCTA	GRCh38
NC_000011.9:g.61717677_61717681delinsTGCTA , CM000673.1:g.61717677_61717681delinsTGCTA	GRCh37
NC_000011.8:g.61474253_61474257delinsTGCTA	NCBI36
NG_009033.1:g.5322_5326delinsTGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-259_-255delinsTGCTA	ENSP00000367282.4:n.-259_-255delinsTGCTA
ENST00000534553.5:c.-434_-430delinsTGCTA	ENSP00000431189.1:n.-434_-430delinsTGCTA
NM_001139443.1:c.-251_-247delinsTGCTA	NP_001132915.1:n.-251_-247delinsTGCTA
NM_001300786.1:c.-251_-247delinsTGCTA	NP_001287715.1:n.-251_-247delinsTGCTA
NM_001300787.1:c.-251_-247delinsTGCTA	NP_001287716.1:n.-251_-247delinsTGCTA
NM_004183.3:c.-259_-255delinsTGCTA	NP_004174.1:n.-259_-255delinsTGCTA
XM_005274210.2:c.-259_-255delinsTGCTA	XP_005274267.1:n.-259_-255delinsTGCTA
XM_005274216.2:c.-251_-247delinsTGCTA	XP_005274273.1:n.-251_-247delinsTGCTA
XM_005274218.3:c.-434_-430delinsTGCTA	XP_005274275.1:n.-434_-430delinsTGCTA
XM_005274219.2:c.-259_-255delinsTGCTA	XP_005274276.1:n.-259_-255delinsTGCTA
XM_005274221.2:c.-259_-255delinsTGCTA	XP_005274278.1:n.-259_-255delinsTGCTA
XM_011545229.1:c.-36-1566_-36-1562delinsTGCTA	XP_011543531.1:n.-36-1566_-36-1562delinsTGCTA
XM_011545230.1:c.59+3390_59+3394delinsTGCTA	XP_011543532.1:n.59+3390_59+3394delinsTGCTA
XM_011545231.1:c.-434_-430delinsTGCTA	XP_011543533.1:n.-434_-430delinsTGCTA
XM_011545232.1:c.-259_-255delinsTGCTA	XP_011543534.1:n.-259_-255delinsTGCTA
NM_001363592.1:c.-259_-255delinsTGCTA	NP_001350521.1:n.-259_-255delinsTGCTA
NR_134580.1:n.322_326delinsTGCTA
XM_005274210.4:c.-259_-255delinsTGCTA	XP_005274267.1:n.-259_-255delinsTGCTA
XM_005274216.4:c.-251_-247delinsTGCTA	XP_005274273.1:n.-251_-247delinsTGCTA
XM_005274219.4:c.-259_-255delinsTGCTA	XP_005274276.1:n.-259_-255delinsTGCTA
XM_005274221.4:c.-259_-255delinsTGCTA	XP_005274278.1:n.-259_-255delinsTGCTA
XM_011545229.3:c.-36-1566_-36-1562delinsTGCTA	XP_011543531.1:n.-36-1566_-36-1562delinsTGCTA
XM_011545230.3:c.59+3390_59+3394delinsTGCTA	XP_011543532.1:n.59+3390_59+3394delinsTGCTA
XR_001747952.2:n.428_432delinsTGCTA
XR_001747953.2:n.432_436delinsTGCTA
XR_001747954.2:n.432_436delinsTGCTA