Canonical Allele Identifier: CA10604324
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 282860
ClinVar RCV Id: RCV000498910 RCV000778734 RCV000812020
dbSNP Id: rs886042503
gnomAD v2: 4-52904423-CAT-C
gnomAD v3: 4-52038257-CAT-C
gnomAD v4: 4-52038257-CAT-C
MyVariant Identifiers: chr4:g.52904424_52904425del (hg19) chr4:g.52038258_52038259del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038258_52038259del , CM000666.2:g.52038258_52038259del GRCh38
NC_000004.11:g.52904424_52904425del , CM000666.1:g.52904424_52904425del GRCh37
NC_000004.10:g.52599181_52599182del NCBI36
NG_008891.1:g.5061_5062del , LRG_204:g.5061_5062del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.1_2del MANE Select ENSP00000370839.6:p.Met1GlyfsTer23
ENST00000381431.9:c.1_2del ENSP00000370839.5:p.Met1GlyfsTer23
NM_000232.4:c.1_2del , LRG_204t1:c.1_2del NP_000223.1:p.Met1GlyfsTer23
XM_011534403.1:c.1_2del XP_011532705.1:p.Met1GlyfsTer27
NM_000232.5:c.1_2del MANE Select NP_000223.1:p.Met1GlyfsTer23
Search 100 bp 5'
Search 100 bp 3'