Canonical Allele Identifier: CA249793
Gene: BCL11A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 127265
ClinVar RCV Id: RCV000115062
dbSNP Id: rs11886868

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.60493111C>T , CM000664.2:g.60493111C>T GRCh38
NC_000002.11:g.60720246C>T , CM000664.1:g.60720246C>T GRCh37
NC_000002.10:g.60573750C>T NCBI36
NG_011968.1:g.65388G>A

Transcript Alleles

HGVS Amino-acid change
NM_018014.3:c.386-24278G>A VV NP_060484.2:p.=
NM_022893.3:c.386-24278G>A VV NP_075044.2:p.=
NM_138559.1:c.386-24278G>A VV NP_612569.1:p.=
XM_011532909.1:c.386-24278G>A XP_011531211.1:p.=
XM_011532910.1:c.386-24278G>A XP_011531212.1:p.=
XM_011532911.1:c.386-30687G>A XP_011531213.1:p.=
XM_011532912.1:c.386-30687G>A XP_011531214.1:p.=
XM_011532913.1:c.380-24278G>A XP_011531215.1:p.=
XM_011532914.1:c.380-30687G>A XP_011531216.1:p.=
XM_011532915.1:c.52+23316G>A XP_011531217.1:p.=
NM_001363864.1:c.386-30687G>A VV NP_001350793.1:p.=
NM_001365609.1:c.386-30687G>A VV NP_001352538.1:p.=
XM_017004333.1:c.380-24278G>A XP_016859822.1:p.=
XM_017004335.1:c.380-30687G>A XP_016859824.1:p.=
XM_017004336.1:c.52+23316G>A XP_016859825.1:p.=
XM_024452962.1:c.230-24278G>A XP_024308730.1:p.=
XM_024452963.1:c.230-24278G>A XP_024308731.1:p.=
ENST00000335712.10:c.386-24278G>A ENSP00000338774.6:p.=
ENST00000356842.8:c.386-24278G>A ENSP00000349300.4:p.=
ENST00000358510.5:c.386-30687G>A ENSP00000351307.4:p.=
ENST00000359629.9:c.386-24278G>A ENSP00000352648.5:p.=
ENST00000477659.1:n.69-24278G>A
ENST00000489516.6:c.230-24278G>A ENSP00000488390.1:p.=
ENST00000492272.5:n.228-24278G>A
ENST00000631857.1:c.*100+15495G>A ENSP00000488886.1:p.=