Canonical Allele Identifier: CA2792344314

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950134_61950135insACA , CM000673.2:g.61950134_61950135insACA	GRCh38
NC_000011.9:g.61717606_61717607insACA , CM000673.1:g.61717606_61717607insACA	GRCh37
NC_000011.8:g.61474182_61474183insACA	NCBI36
NG_009033.1:g.5251_5252insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-330_-329insACA	ENSP00000367282.4:n.-330_-329insACA
ENST00000534553.5:c.-505_-504insACA	ENSP00000431189.1:n.-505_-504insACA
NM_001139443.1:c.-322_-321insACA	NP_001132915.1:n.-322_-321insACA
NM_001300786.1:c.-322_-321insACA	NP_001287715.1:n.-322_-321insACA
NM_001300787.1:c.-322_-321insACA	NP_001287716.1:n.-322_-321insACA
NM_004183.3:c.-330_-329insACA	NP_004174.1:n.-330_-329insACA
XM_005274210.2:c.-330_-329insACA	XP_005274267.1:n.-330_-329insACA
XM_005274216.2:c.-322_-321insACA	XP_005274273.1:n.-322_-321insACA
XM_005274218.3:c.-505_-504insACA	XP_005274275.1:n.-505_-504insACA
XM_005274219.2:c.-330_-329insACA	XP_005274276.1:n.-330_-329insACA
XM_005274221.2:c.-330_-329insACA	XP_005274278.1:n.-330_-329insACA
XM_011545229.1:c.-36-1637_-36-1636insACA	XP_011543531.1:n.-36-1637_-36-1636insACA
XM_011545230.1:c.59+3319_59+3320insACA	XP_011543532.1:n.59+3319_59+3320insACA
XM_011545231.1:c.-505_-504insACA	XP_011543533.1:n.-505_-504insACA
XM_011545232.1:c.-330_-329insACA	XP_011543534.1:n.-330_-329insACA
NM_001363592.1:c.-330_-329insACA	NP_001350521.1:n.-330_-329insACA
NR_134580.1:n.251_252insACA
XM_005274210.4:c.-330_-329insACA	XP_005274267.1:n.-330_-329insACA
XM_005274216.4:c.-322_-321insACA	XP_005274273.1:n.-322_-321insACA
XM_005274219.4:c.-330_-329insACA	XP_005274276.1:n.-330_-329insACA
XM_005274221.4:c.-330_-329insACA	XP_005274278.1:n.-330_-329insACA
XM_011545229.3:c.-36-1637_-36-1636insACA	XP_011543531.1:n.-36-1637_-36-1636insACA
XM_011545230.3:c.59+3319_59+3320insACA	XP_011543532.1:n.59+3319_59+3320insACA
XR_001747952.2:n.357_358insACA
XR_001747953.2:n.361_362insACA
XR_001747954.2:n.361_362insACA