Canonical Allele Identifier: CA2578492183

Gene: SNCB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.176626400del , CM000667.2:g.176626400del	GRCh38
NC_000005.9:g.176053401del , CM000667.1:g.176053401del	GRCh37
NC_000005.8:g.175986007del	NCBI36
NG_012131.1:g.9158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393693.7:c.281del MANE Select	ENSP00000377296.2:p.Lys94SerfsTer14
ENST00000310112.7:c.281del	ENSP00000308057.3:p.Lys94SerfsTer14
ENST00000393693.6:c.281del	ENSP00000377296.2:p.Lys94SerfsTer14
ENST00000506696.1:c.281del	ENSP00000422223.1:p.Lys94SerfsTer14
ENST00000508006.1:n.878del
ENST00000510387.5:c.281del	ENSP00000424073.1:p.Lys94SerfsTer14
ENST00000614675.4:c.239del	ENSP00000479489.1:p.Lys80SerfsTer14
NM_001001502.1:c.281del	NP_001001502.1:p.Lys94SerfsTer14
NM_003085.3:c.281del	NP_003076.1:p.Lys94SerfsTer14
XM_006714914.2:c.281del	XP_006714977.1:p.Lys94SerfsTer14
XM_006714915.2:c.281del	XP_006714978.1:p.Lys94SerfsTer14
XM_006714916.1:c.281del	XP_006714979.1:p.Lys94SerfsTer14
XM_011534640.1:c.281del	XP_011532942.1:p.Lys94SerfsTer14
NM_001001502.2:c.281del	NP_001001502.1:p.Lys94SerfsTer14
NM_001318034.1:c.239del	NP_001304963.1:p.Lys80SerfsTer14
NM_001318035.1:c.281del	NP_001304964.1:p.Lys94ArgfsTer?
NM_001318036.1:c.239del	NP_001304965.1:p.Lys80SerfsTer14
NM_001318037.1:c.281del	NP_001304966.1:p.Lys94ArgfsTer?
NM_001363140.1:c.281del	NP_001350069.1:p.Lys94SerfsTer14
NM_003085.4:c.281del	NP_003076.1:p.Lys94SerfsTer14
XM_006714914.3:c.281del	XP_006714977.1:p.Lys94SerfsTer14
XM_006714915.3:c.281del	XP_006714978.1:p.Lys94SerfsTer14
XM_006714916.3:c.281del	XP_006714979.1:p.Lys94SerfsTer14
XM_011534640.2:c.281del	XP_011532942.1:p.Lys94SerfsTer14
NM_003085.5:c.281del MANE Select	NP_003076.1:p.Lys94SerfsTer14
NM_001001502.3:c.281del	NP_001001502.1:p.Lys94SerfsTer14
NM_001318035.2:c.281del	NP_001304964.1:p.Lys94ArgfsTer?
NM_001318036.2:c.239del	NP_001304965.1:p.Lys80SerfsTer14
NM_001318037.2:c.281del	NP_001304966.1:p.Lys94ArgfsTer?
NM_001363140.2:c.281del	NP_001350069.1:p.Lys94SerfsTer14
NM_001318034.2:c.239del	NP_001304963.1:p.Lys80SerfsTer14