Canonical Allele Identifier: CA1042455971

Gene: BCS1L

Linked Data

• dbSNP Id: rs1939542260
• gnomAD v3: 2-218662194-TAGGCATTCCTTACAG-T
• gnomAD v4: 2-218662194-TAGGCATTCCTTACAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218662196_218662210del , CM000664.2:g.218662196_218662210del	GRCh38
NC_000002.11:g.219526919_219526933del , CM000664.1:g.219526919_219526933del	GRCh37
NC_000002.10:g.219235163_219235177del	NCBI36
NG_008018.1:g.7541_7555del , LRG_539:g.7541_7555del
NG_033099.1:g.2332_2346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359273.8:c.656-1_669del
ENST00000392111.7:c.656-1_669del
ENST00000359273.7:c.656-1_669del
ENST00000392109.5:c.656-1_669del
ENST00000392110.6:c.656-1_669del
ENST00000392111.6:c.656-1_669del
ENST00000412366.5:c.656-1_669del
ENST00000426649.5:c.5-1_18del
ENST00000431802.5:c.656-1_669del
ENST00000439945.5:c.656-1_669del
ENST00000443791.5:c.296-1_309del
ENST00000460579.5:n.104-1_117del
ENST00000465706.1:n.37-1_50del
ENST00000471576.5:n.653-1_666del
ENST00000477422.5:n.289-1_302del
NM_001079866.1:c.656-1_669del
NM_001257342.1:c.656-1_669del
NM_001257343.1:c.656-1_669del
NM_001257344.1:c.656-1_669del , LRG_539t2:c.656-1_669del
NM_004328.4:c.656-1_669del , LRG_539t1:c.656-1_669del
XM_005246747.3:c.656-1_669del
XM_005246748.1:c.155-1_168del
XM_005246749.3:c.155-1_168del
XM_006712678.1:c.656-1_669del
XM_011511587.1:c.656-1_669del
XM_011511588.1:c.296-1_309del
XR_427105.1:n.1598-1_1611del
NM_001318836.1:c.296-1_309del
NM_001320717.1:c.656-1_669del
XM_005246748.3:c.155-1_168del
XM_017004631.1:c.656-1_669del
XM_017004632.1:c.656-1_669del
XM_017004633.2:c.155-1_168del
XM_017004634.2:c.155-1_168del
XR_427105.3:n.1668-1_1681del
NM_001079866.2:c.656-1_669del
NM_001257342.2:c.656-1_669del
NM_001257343.2:c.656-1_669del
NM_001257344.2:c.656-1_669del
NM_001318836.2:c.296-1_309del
NM_001320717.2:c.656-1_669del
NM_001371443.1:c.656-1_669del
NM_001371444.1:c.656-1_669del
NM_001371446.1:c.656-1_669del
NM_001371447.1:c.656-1_669del
NM_001371448.1:c.656-1_669del
NM_001371449.1:c.656-1_669del
NM_001371450.1:c.656-1_669del
NM_001371451.1:c.296-1_309del
NM_001371452.1:c.155-1_168del
NM_001371453.1:c.155-1_168del
NM_001371454.1:c.155-1_168del
NM_001371455.1:c.155-1_168del
NM_001371456.1:c.155-1_168del
NM_001374085.1:c.656-1_669del
NM_001374086.1:c.155-1_168del
NM_004328.5:c.656-1_669del
NR_163955.1:n.1668-1_1681del