Canonical Allele Identifier: CA222930027

Gene: BEST1

Linked Data

• dbSNP Id: rs778334901
• MyVariant Identifiers: chr11:g.61717678_61717681del (hg19) ; chr11:g.61950206_61950209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950208_61950211del , CM000673.2:g.61950208_61950211del	GRCh38
NC_000011.9:g.61717680_61717683del , CM000673.1:g.61717680_61717683del	GRCh37
NC_000011.8:g.61474256_61474259del	NCBI36
NG_009033.1:g.5325_5328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-256_-253del	ENSP00000367282.4:n.-256_-253del
ENST00000534553.5:c.-431_-428del	ENSP00000431189.1:n.-431_-428del
NM_001139443.1:c.-248_-245del	NP_001132915.1:n.-248_-245del
NM_001300786.1:c.-248_-245del	NP_001287715.1:n.-248_-245del
NM_001300787.1:c.-248_-245del	NP_001287716.1:n.-248_-245del
NM_004183.3:c.-256_-253del	NP_004174.1:n.-256_-253del
XM_005274210.2:c.-256_-253del	XP_005274267.1:n.-256_-253del
XM_005274216.2:c.-248_-245del	XP_005274273.1:n.-248_-245del
XM_005274218.3:c.-431_-428del	XP_005274275.1:n.-431_-428del
XM_005274219.2:c.-256_-253del	XP_005274276.1:n.-256_-253del
XM_005274221.2:c.-256_-253del	XP_005274278.1:n.-256_-253del
XM_011545229.1:c.-36-1563_-36-1560del	XP_011543531.1:n.-36-1563_-36-1560del
XM_011545230.1:c.59+3393_59+3396del	XP_011543532.1:n.59+3393_59+3396del
XM_011545231.1:c.-431_-428del	XP_011543533.1:n.-431_-428del
XM_011545232.1:c.-256_-253del	XP_011543534.1:n.-256_-253del
NM_001363592.1:c.-256_-253del	NP_001350521.1:n.-256_-253del
NR_134580.1:n.325_328del
XM_005274210.4:c.-256_-253del	XP_005274267.1:n.-256_-253del
XM_005274216.4:c.-248_-245del	XP_005274273.1:n.-248_-245del
XM_005274219.4:c.-256_-253del	XP_005274276.1:n.-256_-253del
XM_005274221.4:c.-256_-253del	XP_005274278.1:n.-256_-253del
XM_011545229.3:c.-36-1563_-36-1560del	XP_011543531.1:n.-36-1563_-36-1560del
XM_011545230.3:c.59+3393_59+3396del	XP_011543532.1:n.59+3393_59+3396del
XR_001747952.2:n.431_434del
XR_001747953.2:n.435_438del
XR_001747954.2:n.435_438del