Canonical Allele Identifier: CA2613923153

Gene: BEST1

Linked Data

• gnomAD v4: 11-61955132-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955135_61955137del , CM000673.2:g.61955135_61955137del	GRCh38
NC_000011.9:g.61722607_61722609del , CM000673.1:g.61722607_61722609del	GRCh37
NC_000011.8:g.61479183_61479185del	NCBI36
NG_009033.1:g.10252_10254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.181_183del MANE Select	ENSP00000367282.4:p.Met61del
ENST00000378043.8:c.181_183del	ENSP00000367282.4:p.Met61del
ENST00000449131.6:c.1_3del	ENSP00000399709.2:p.Met1del
ENST00000524877.5:n.97_99del
ENST00000524926.5:c.181_183del	ENSP00000432681.1:p.Met61del
ENST00000529265.5:n.104_106del
ENST00000533521.5:n.289_291del
ENST00000534553.5:c.-183_-181del	ENSP00000431189.1:n.-183_-181del
NM_001139443.1:c.1_3del	NP_001132915.1:p.Met1del
NM_001300786.1:c.1_3del	NP_001287715.1:p.Met1del
NM_001300787.1:c.1_3del	NP_001287716.1:p.Met1del
NM_004183.3:c.181_183del	NP_004174.1:p.Met61del
XM_005274210.2:c.181_183del	XP_005274267.1:p.Met61del
XM_005274216.2:c.1_3del	XP_005274273.1:p.Met1del
XM_005274218.3:c.-183_-181del	XP_005274275.1:n.-183_-181del
XM_005274219.2:c.181_183del	XP_005274276.1:p.Met61del
XM_005274221.2:c.181_183del	XP_005274278.1:p.Met61del
XM_011545229.1:c.181_183del	XP_011543531.1:p.Met61del
XM_011545230.1:c.88_90del	XP_011543532.1:p.Met30del
XM_011545231.1:c.-183_-181del	XP_011543533.1:n.-183_-181del
XM_011545232.1:c.181_183del	XP_011543534.1:p.Met61del
NM_001363591.1:c.-324_-322del	NP_001350520.1:n.-324_-322del
NM_001363592.1:c.181_183del	NP_001350521.1:p.Met61del
NM_001363593.1:c.-1181_-1179del	NP_001350522.1:n.-1181_-1179del
NR_134580.1:n.761_763del
XM_005274210.4:c.181_183del	XP_005274267.1:p.Met61del
XM_005274215.4:c.-324_-322del	XP_005274272.1:n.-324_-322del
XM_005274216.4:c.1_3del	XP_005274273.1:p.Met1del
XM_005274219.4:c.181_183del	XP_005274276.1:p.Met61del
XM_005274221.4:c.181_183del	XP_005274278.1:p.Met61del
XM_011545229.3:c.181_183del	XP_011543531.1:p.Met61del
XM_011545230.3:c.88_90del	XP_011543532.1:p.Met30del
XM_017018230.2:c.-324_-322del	XP_016873719.1:n.-324_-322del
XR_001747952.2:n.679_681del
XR_001747953.2:n.871_873del
XR_001747954.2:n.871_873del
XR_002957249.1:n.2603_2605del
NM_004183.4:c.181_183del MANE Select	NP_004174.1:p.Met61del
NM_001139443.2:c.1_3del	NP_001132915.1:p.Met1del
NM_001300786.2:c.1_3del	NP_001287715.1:p.Met1del
NM_001300787.2:c.1_3del	NP_001287716.1:p.Met1del
NR_134580.2:n.294_296del