Canonical Allele Identifier: CA564458072

Gene: SNCB

Linked Data

• dbSNP Id: rs1484574599
• gnomAD v2: 5-176048226-CCT-C
• gnomAD v3: 5-176621225-CCT-C
• gnomAD v4: 5-176621225-CCT-C
• MyVariant Identifiers: chr5:g.176048227_176048228del (hg19) ; chr5:g.176621226_176621227del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.176621227_176621228del , CM000667.2:g.176621227_176621228del	GRCh38
NC_000005.9:g.176048228_176048229del , CM000667.1:g.176048228_176048229del	GRCh37
NC_000005.8:g.175980834_175980835del	NCBI36
NG_012131.1:g.14330_14331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393693.7:c.359_360del MANE Select	ENSP00000377296.2:p.Glu120GlyfsTer11
ENST00000310112.7:c.359_360del	ENSP00000308057.3:p.Glu120GlyfsTer11
ENST00000393693.6:c.359_360del	ENSP00000377296.2:p.Glu120GlyfsTer11
ENST00000506696.1:c.359_360del	ENSP00000422223.1:p.Glu120GlyfsTer11
ENST00000508006.1:n.956_957del
ENST00000510387.5:c.359_360del	ENSP00000424073.1:p.Glu120GlyfsTer11
ENST00000614675.4:c.317_318del	ENSP00000479489.1:p.Glu106GlyfsTer11
NM_001001502.1:c.359_360del	NP_001001502.1:p.Glu120GlyfsTer11
NM_003085.3:c.359_360del	NP_003076.1:p.Glu120GlyfsTer11
XM_006714914.2:c.359_360del	XP_006714977.1:p.Glu120GlyfsTer25
XM_006714915.2:c.359_360del	XP_006714978.1:p.Glu120GlyfsTer25
XM_006714916.1:c.359_360del	XP_006714979.1:p.Glu120GlyfsTer11
XM_011534640.1:c.359_360del	XP_011532942.1:p.Glu120GlyfsTer25
NM_001001502.2:c.359_360del	NP_001001502.1:p.Glu120GlyfsTer11
NM_001318034.1:c.317_318del	NP_001304963.1:p.Glu106GlyfsTer11
NM_001318035.1:c.283-384_283-383del	NP_001304964.1:n.283-384_283-383del
NM_001318036.1:c.317_318del	NP_001304965.1:p.Glu106GlyfsTer11
NM_001318037.1:c.283-384_283-383del	NP_001304966.1:n.283-384_283-383del
NM_001363140.1:c.359_360del	NP_001350069.1:p.Glu120GlyfsTer11
NM_003085.4:c.359_360del	NP_003076.1:p.Glu120GlyfsTer11
XM_006714914.3:c.359_360del	XP_006714977.1:p.Glu120GlyfsTer25
XM_006714915.3:c.359_360del	XP_006714978.1:p.Glu120GlyfsTer25
XM_006714916.3:c.359_360del	XP_006714979.1:p.Glu120GlyfsTer11
XM_011534640.2:c.359_360del	XP_011532942.1:p.Glu120GlyfsTer25
NM_003085.5:c.359_360del MANE Select	NP_003076.1:p.Glu120GlyfsTer11
NM_001001502.3:c.359_360del	NP_001001502.1:p.Glu120GlyfsTer11
NM_001318035.2:c.283-384_283-383del	NP_001304964.1:n.283-384_283-383del
NM_001318036.2:c.317_318del	NP_001304965.1:p.Glu106GlyfsTer11
NM_001318037.2:c.283-384_283-383del	NP_001304966.1:n.283-384_283-383del
NM_001363140.2:c.359_360del	NP_001350069.1:p.Glu120GlyfsTer11
NM_001318034.2:c.317_318del	NP_001304963.1:p.Glu106GlyfsTer11