Canonical Allele Identifier: CA2676649285

Gene: SNCB

Linked Data

• gnomAD v4: 5-176621141-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.176621143_176621144del , CM000667.2:g.176621143_176621144del	GRCh38
NC_000005.9:g.176048144_176048145del , CM000667.1:g.176048144_176048145del	GRCh37
NC_000005.8:g.175980750_175980751del	NCBI36
NG_012131.1:g.14414_14415del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393693.7:c.372+71_372+72del MANE Select	ENSP00000377296.2:n.372+71_372+72del
ENST00000310112.7:c.372+71_372+72del	ENSP00000308057.3:n.372+71_372+72del
ENST00000393693.6:c.372+71_372+72del	ENSP00000377296.2:n.372+71_372+72del
ENST00000506696.1:c.372+71_372+72del	ENSP00000422223.1:n.372+71_372+72del
ENST00000510387.5:c.372+71_372+72del	ENSP00000424073.1:n.372+71_372+72del
ENST00000614675.4:c.330+71_330+72del	ENSP00000479489.1:n.330+71_330+72del
NM_001001502.1:c.372+71_372+72del	NP_001001502.1:n.372+71_372+72del
NM_003085.3:c.372+71_372+72del	NP_003076.1:n.372+71_372+72del
XM_006714914.2:c.443_444del	XP_006714977.1:p.Gly148AspfsTer?
XM_006714915.2:c.443_444del	XP_006714978.1:p.Gly148AspfsTer?
XM_006714916.1:c.372+71_372+72del	XP_006714979.1:n.372+71_372+72del
XM_011534640.1:c.443_444del	XP_011532942.1:p.Gly148AspfsTer?
NM_001001502.2:c.372+71_372+72del	NP_001001502.1:n.372+71_372+72del
NM_001318034.1:c.330+71_330+72del	NP_001304963.1:n.330+71_330+72del
NM_001318035.1:c.283-300_283-299del	NP_001304964.1:n.283-300_283-299del
NM_001318036.1:c.330+71_330+72del	NP_001304965.1:n.330+71_330+72del
NM_001318037.1:c.283-300_283-299del	NP_001304966.1:n.283-300_283-299del
NM_001363140.1:c.372+71_372+72del	NP_001350069.1:n.372+71_372+72del
NM_003085.4:c.372+71_372+72del	NP_003076.1:n.372+71_372+72del
XM_006714914.3:c.443_444del	XP_006714977.1:p.Gly148AspfsTer13
XM_006714915.3:c.443_444del	XP_006714978.1:p.Gly148AspfsTer13
XM_006714916.3:c.372+71_372+72del	XP_006714979.1:n.372+71_372+72del
XM_011534640.2:c.443_444del	XP_011532942.1:p.Gly148AspfsTer13
NM_003085.5:c.372+71_372+72del MANE Select	NP_003076.1:n.372+71_372+72del
NM_001001502.3:c.372+71_372+72del	NP_001001502.1:n.372+71_372+72del
NM_001318035.2:c.283-300_283-299del	NP_001304964.1:n.283-300_283-299del
NM_001318036.2:c.330+71_330+72del	NP_001304965.1:n.330+71_330+72del
NM_001318037.2:c.283-300_283-299del	NP_001304966.1:n.283-300_283-299del
NM_001363140.2:c.372+71_372+72del	NP_001350069.1:n.372+71_372+72del
NM_001318034.2:c.330+71_330+72del	NP_001304963.1:n.330+71_330+72del