Canonical Allele Identifier: CA599523898

Gene: BEST1

Linked Data

• dbSNP Id: rs1216912154
• gnomAD v2: 11-61717803-A-AG
• gnomAD v3: 11-61950331-A-AG
• gnomAD v4: 11-61950331-A-AG
• MyVariant Identifiers: chr11:g.61717803_61717804insG (hg19) ; chr11:g.61950331_61950332insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950332dup , CM000673.2:g.61950332dup	GRCh38
NC_000011.9:g.61717804dup , CM000673.1:g.61717804dup	GRCh37
NC_000011.8:g.61474380dup	NCBI36
NG_009033.1:g.5449dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-132dup	ENSP00000367282.4:n.-132dup
ENST00000534553.5:c.-307dup	ENSP00000431189.1:n.-307dup
NM_001139443.1:c.-124dup	NP_001132915.1:n.-124dup
NM_001300786.1:c.-124dup	NP_001287715.1:n.-124dup
NM_001300787.1:c.-124dup	NP_001287716.1:n.-124dup
NM_004183.3:c.-132dup	NP_004174.1:n.-132dup
XM_005274210.2:c.-132dup	XP_005274267.1:n.-132dup
XM_005274216.2:c.-124dup	XP_005274273.1:n.-124dup
XM_005274218.3:c.-307dup	XP_005274275.1:n.-307dup
XM_005274219.2:c.-132dup	XP_005274276.1:n.-132dup
XM_005274221.2:c.-132dup	XP_005274278.1:n.-132dup
XM_011545229.1:c.-36-1439dup	XP_011543531.1:n.-36-1439dup
XM_011545230.1:c.59+3517dup	XP_011543532.1:n.59+3517dup
XM_011545231.1:c.-307dup	XP_011543533.1:n.-307dup
XM_011545232.1:c.-132dup	XP_011543534.1:n.-132dup
NM_001363592.1:c.-132dup	NP_001350521.1:n.-132dup
NR_134580.1:n.449dup
XM_005274210.4:c.-132dup	XP_005274267.1:n.-132dup
XM_005274216.4:c.-124dup	XP_005274273.1:n.-124dup
XM_005274219.4:c.-132dup	XP_005274276.1:n.-132dup
XM_005274221.4:c.-132dup	XP_005274278.1:n.-132dup
XM_011545229.3:c.-36-1439dup	XP_011543531.1:n.-36-1439dup
XM_011545230.3:c.59+3517dup	XP_011543532.1:n.59+3517dup
XR_001747952.2:n.555dup
XR_001747953.2:n.559dup
XR_001747954.2:n.559dup