Canonical Allele Identifier: CA2792344317

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950202_61950203insAG , CM000673.2:g.61950202_61950203insAG	GRCh38
NC_000011.9:g.61717674_61717675insAG , CM000673.1:g.61717674_61717675insAG	GRCh37
NC_000011.8:g.61474250_61474251insAG	NCBI36
NG_009033.1:g.5319_5320insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-262_-261insAG	ENSP00000367282.4:n.-262_-261insAG
ENST00000534553.5:c.-437_-436insAG	ENSP00000431189.1:n.-437_-436insAG
NM_001139443.1:c.-254_-253insAG	NP_001132915.1:n.-254_-253insAG
NM_001300786.1:c.-254_-253insAG	NP_001287715.1:n.-254_-253insAG
NM_001300787.1:c.-254_-253insAG	NP_001287716.1:n.-254_-253insAG
NM_004183.3:c.-262_-261insAG	NP_004174.1:n.-262_-261insAG
XM_005274210.2:c.-262_-261insAG	XP_005274267.1:n.-262_-261insAG
XM_005274216.2:c.-254_-253insAG	XP_005274273.1:n.-254_-253insAG
XM_005274218.3:c.-437_-436insAG	XP_005274275.1:n.-437_-436insAG
XM_005274219.2:c.-262_-261insAG	XP_005274276.1:n.-262_-261insAG
XM_005274221.2:c.-262_-261insAG	XP_005274278.1:n.-262_-261insAG
XM_011545229.1:c.-36-1569_-36-1568insAG	XP_011543531.1:n.-36-1569_-36-1568insAG
XM_011545230.1:c.59+3387_59+3388insAG	XP_011543532.1:n.59+3387_59+3388insAG
XM_011545231.1:c.-437_-436insAG	XP_011543533.1:n.-437_-436insAG
XM_011545232.1:c.-262_-261insAG	XP_011543534.1:n.-262_-261insAG
NM_001363592.1:c.-262_-261insAG	NP_001350521.1:n.-262_-261insAG
NR_134580.1:n.319_320insAG
XM_005274210.4:c.-262_-261insAG	XP_005274267.1:n.-262_-261insAG
XM_005274216.4:c.-254_-253insAG	XP_005274273.1:n.-254_-253insAG
XM_005274219.4:c.-262_-261insAG	XP_005274276.1:n.-262_-261insAG
XM_005274221.4:c.-262_-261insAG	XP_005274278.1:n.-262_-261insAG
XM_011545229.3:c.-36-1569_-36-1568insAG	XP_011543531.1:n.-36-1569_-36-1568insAG
XM_011545230.3:c.59+3387_59+3388insAG	XP_011543532.1:n.59+3387_59+3388insAG
XR_001747952.2:n.425_426insAG
XR_001747953.2:n.429_430insAG
XR_001747954.2:n.429_430insAG