Canonical Allele Identifier: CA796085899
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs963264476
gnomAD v4: 4-52038076-TCCCGCCCCGC-T
MyVariant Identifiers: chr4:g.52904243_52904252del (hg19) chr4:g.52038077_52038086del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038086_52038095del , CM000666.2:g.52038086_52038095del GRCh38
NC_000004.11:g.52904252_52904261del , CM000666.1:g.52904252_52904261del GRCh37
NC_000004.10:g.52599009_52599018del NCBI36
NG_008891.1:g.5234_5243del , LRG_204:g.5234_5243del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+141_33+150del MANE Select ENSP00000370839.6:n.33+141_33+150del
ENST00000381431.9:c.33+141_33+150del ENSP00000370839.5:n.33+141_33+150del
ENST00000506357.5:c.19+141_19+150del
NM_000232.4:c.33+141_33+150del , LRG_204t1:c.33+141_33+150del NP_000223.1:n.33+141_33+150del
XM_011534403.1:c.33+141_33+150del XP_011532705.1:n.33+141_33+150del
NM_000232.5:c.33+141_33+150del MANE Select NP_000223.1:n.33+141_33+150del
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