Canonical Allele Identifier: CA2613923902

Gene: BEST1

Linked Data

• gnomAD v4: 11-61955461-CCTGCGCGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955462_61955470del , CM000673.2:g.61955462_61955470del	GRCh38
NC_000011.9:g.61722934_61722942del , CM000673.1:g.61722934_61722942del	GRCh37
NC_000011.8:g.61479510_61479518del	NCBI36
NG_009033.1:g.10579_10587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.248-256_248-248del MANE Select	ENSP00000367282.4:n.248-256_248-248del
ENST00000378043.8:c.248-256_248-248del	ENSP00000367282.4:n.248-256_248-248del
ENST00000449131.6:c.68-256_68-248del	ENSP00000399709.2:n.68-256_68-248del
ENST00000524877.5:n.424_432del
ENST00000524926.5:c.248-256_248-248del	ENSP00000432681.1:n.248-256_248-248del
ENST00000526988.1:c.-72+75_-72+83del	ENSP00000433195.1:n.-72+75_-72+83del
ENST00000529265.5:n.171-256_171-248del
ENST00000533521.5:n.616_624del
ENST00000534553.5:c.-72+75_-72+83del	ENSP00000431189.1:n.-72+75_-72+83del
NM_001139443.1:c.68-256_68-248del	NP_001132915.1:n.68-256_68-248del
NM_001300786.1:c.68-256_68-248del	NP_001287715.1:n.68-256_68-248del
NM_001300787.1:c.68-256_68-248del	NP_001287716.1:n.68-256_68-248del
NM_004183.3:c.248-256_248-248del	NP_004174.1:n.248-256_248-248del
XM_005274210.2:c.248-256_248-248del	XP_005274267.1:n.248-256_248-248del
XM_005274215.2:c.-72+75_-72+83del	XP_005274272.1:n.-72+75_-72+83del
XM_005274216.2:c.68-256_68-248del	XP_005274273.1:n.68-256_68-248del
XM_005274218.3:c.-72+75_-72+83del	XP_005274275.1:n.-72+75_-72+83del
XM_005274219.2:c.248-256_248-248del	XP_005274276.1:n.248-256_248-248del
XM_005274221.2:c.248-256_248-248del	XP_005274278.1:n.248-256_248-248del
XM_011545229.1:c.248-256_248-248del	XP_011543531.1:n.248-256_248-248del
XM_011545230.1:c.155-256_155-248del	XP_011543532.1:n.155-256_155-248del
XM_011545231.1:c.-72+75_-72+83del	XP_011543533.1:n.-72+75_-72+83del
XM_011545232.1:c.248-256_248-248del	XP_011543534.1:n.248-256_248-248del
NM_001363591.1:c.-72+75_-72+83del	NP_001350520.1:n.-72+75_-72+83del
NM_001363592.1:c.248-256_248-248del	NP_001350521.1:n.248-256_248-248del
NM_001363593.1:c.-929+75_-929+83del	NP_001350522.1:n.-929+75_-929+83del
NR_134580.1:n.828-256_828-248del
XM_005274210.4:c.248-256_248-248del	XP_005274267.1:n.248-256_248-248del
XM_005274215.4:c.-72+75_-72+83del	XP_005274272.1:n.-72+75_-72+83del
XM_005274216.4:c.68-256_68-248del	XP_005274273.1:n.68-256_68-248del
XM_005274219.4:c.248-256_248-248del	XP_005274276.1:n.248-256_248-248del
XM_005274221.4:c.248-256_248-248del	XP_005274278.1:n.248-256_248-248del
XM_011545229.3:c.248-256_248-248del	XP_011543531.1:n.248-256_248-248del
XM_011545230.3:c.155-256_155-248del	XP_011543532.1:n.155-256_155-248del
XM_017018230.2:c.-72+75_-72+83del	XP_016873719.1:n.-72+75_-72+83del
XR_001747952.2:n.746-256_746-248del
XR_001747953.2:n.938-256_938-248del
XR_001747954.2:n.938-256_938-248del
XR_002957249.1:n.2268_2276del
NM_004183.4:c.248-256_248-248del MANE Select	NP_004174.1:n.248-256_248-248del
NM_001139443.2:c.68-256_68-248del	NP_001132915.1:n.68-256_68-248del
NM_001300786.2:c.68-256_68-248del	NP_001287715.1:n.68-256_68-248del
NM_001300787.2:c.68-256_68-248del	NP_001287716.1:n.68-256_68-248del
NM_001363591.2:c.-72+75_-72+83del	NP_001350520.1:n.-72+75_-72+83del
NM_001363593.2:c.-929+75_-929+83del	NP_001350522.1:n.-929+75_-929+83del
NR_134580.2:n.361-256_361-248del