Canonical Allele Identifier: CA2109585

Gene: BCS1L

Linked Data

• dbSNP Id: rs751940444
• ExAC: 2:219525673 A / AC
• gnomAD v2: 2-219525673-A-AC
• gnomAD v4: 2-218660950-A-AC
• MyVariant Identifiers: chr2:g.219525674_219525675insC (hg19) ; chr2:g.219525673_219525674insC (hg19) ; chr2:g.218660951_218660952insC (hg38) ; chr2:g.218660950_218660951insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218660954dup , CM000664.2:g.218660954dup	GRCh38
NC_000002.11:g.219525677dup , CM000664.1:g.219525677dup	GRCh37
NC_000002.10:g.219233921dup	NCBI36
NG_008018.1:g.6299dup , LRG_539:g.6299dup
NG_033099.1:g.3590dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000359273.8:c.-34dup MANE Select	ENSP00000352219.3:n.-34dup
ENST00000392111.7:c.-34dup	ENSP00000375959.2:n.-34dup
ENST00000643945.1:c.-34dup	ENSP00000496514.1:n.-34dup
ENST00000359273.7:c.-34dup	ENSP00000352219.3:n.-34dup
ENST00000392109.5:c.-34dup	ENSP00000375957.1:n.-34dup
ENST00000392110.6:c.-34dup	ENSP00000375958.2:n.-34dup
ENST00000392111.6:c.-34dup	ENSP00000375959.2:n.-34dup
ENST00000412366.5:c.-34dup	ENSP00000406494.1:n.-34dup
ENST00000423377.5:c.-34dup	ENSP00000397293.1:n.-34dup
ENST00000428880.5:c.-34dup	ENSP00000391007.1:n.-34dup
ENST00000430322.5:c.-34dup	ENSP00000398957.1:n.-34dup
ENST00000431802.5:c.-34dup	ENSP00000413908.1:n.-34dup
ENST00000439945.5:c.-34dup	ENSP00000404999.1:n.-34dup
ENST00000443791.5:c.-40-452dup	ENSP00000412729.1:n.-40-452dup
ENST00000456050.5:c.-34dup	ENSP00000395440.1:n.-34dup
ENST00000493376.1:n.88dup
NM_001079866.1:c.-34dup	NP_001073335.1:n.-34dup
NM_001257342.1:c.-34dup	NP_001244271.1:n.-34dup
NM_001257343.1:c.-34dup	NP_001244272.1:n.-34dup
NM_001257344.1:c.-34dup , LRG_539t2:c.-34dup	NP_001244273.1:n.-34dup
NM_004328.4:c.-34dup , LRG_539t1:c.-34dup	NP_004319.1:n.-34dup
XM_005246747.3:c.-34dup	XP_005246804.1:n.-34dup
XM_005246749.3:c.-41-805dup	XP_005246806.1:n.-41-805dup
XM_006712678.1:c.-34dup	XP_006712741.1:n.-34dup
XM_011511587.1:c.-34dup	XP_011509889.1:n.-34dup
XM_011511588.1:c.-40-452dup	XP_011509890.1:n.-40-452dup
XR_427105.1:n.909dup
NM_001318836.1:c.-40-452dup	NP_001305765.1:n.-40-452dup
NM_001320717.1:c.-34dup	NP_001307646.1:n.-34dup
XM_005246748.3:c.-510dup	XP_005246805.1:n.-510dup
XM_017004631.1:c.-34dup	XP_016860120.1:n.-34dup
XM_017004632.1:c.-34dup	XP_016860121.1:n.-34dup
XM_017004633.2:c.-510dup	XP_016860122.1:n.-510dup
XM_017004634.2:c.-510dup	XP_016860123.1:n.-510dup
XR_427105.3:n.979dup
NM_001079866.2:c.-34dup MANE Select	NP_001073335.1:n.-34dup
NM_001257342.2:c.-34dup	NP_001244271.1:n.-34dup
NM_001257343.2:c.-34dup	NP_001244272.1:n.-34dup
NM_001257344.2:c.-34dup	NP_001244273.1:n.-34dup
NM_001318836.2:c.-40-452dup	NP_001305765.1:n.-40-452dup
NM_001320717.2:c.-34dup	NP_001307646.1:n.-34dup
NM_001371443.1:c.-34dup	NP_001358372.1:n.-34dup
NM_001371444.1:c.-34dup	NP_001358373.1:n.-34dup
NM_001371446.1:c.-34dup	NP_001358375.1:n.-34dup
NM_001371447.1:c.-31-3dup	NP_001358376.1:n.-31-3dup
NM_001371448.1:c.-34dup	NP_001358377.1:n.-34dup
NM_001371449.1:c.-34dup	NP_001358378.1:n.-34dup
NM_001371450.1:c.-34dup	NP_001358379.1:n.-34dup
NM_001371451.1:c.-41+206dup	NP_001358380.1:n.-41+206dup
NM_001371452.1:c.-41-805dup	NP_001358381.1:n.-41-805dup
NM_001371453.1:c.-510dup	NP_001358382.1:n.-510dup
NM_001371454.1:c.-510dup	NP_001358383.1:n.-510dup
NM_001371455.1:c.-510dup	NP_001358384.1:n.-510dup
NM_001371456.1:c.-510dup	NP_001358385.1:n.-510dup
NM_001374085.1:c.-34dup	NP_001361014.1:n.-34dup
NM_001374086.1:c.-510dup	NP_001361015.1:n.-510dup
NM_004328.5:c.-34dup	NP_004319.1:n.-34dup
NR_163955.1:n.979dup