Canonical Allele Identifier: CA796086909
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1488476710
gnomAD v3: 4-52027817-ACTTT-A
gnomAD v4: 4-52027817-ACTTT-A
MyVariant Identifiers: chr4:g.52893984_52893987del (hg19) chr4:g.52027818_52027821del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027822_52027825del , CM000666.2:g.52027822_52027825del GRCh38
NC_000004.11:g.52893988_52893991del , CM000666.1:g.52893988_52893991del GRCh37
NC_000004.10:g.52588745_52588748del NCBI36
NG_008891.1:g.15499_15502del , LRG_204:g.15499_15502del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.753+147_753+150del MANE Select ENSP00000370839.6:n.753+147_753+150del
ENST00000381431.9:c.753+147_753+150del ENSP00000370839.5:n.753+147_753+150del
NM_000232.4:c.753+147_753+150del , LRG_204t1:c.753+147_753+150del NP_000223.1:n.753+147_753+150del
XM_006714049.2:c.456+147_456+150del XP_006714112.1:n.456+147_456+150del
XM_011534403.1:c.543+147_543+150del XP_011532705.1:n.543+147_543+150del
XM_011534404.1:c.456+147_456+150del XP_011532706.1:n.456+147_456+150del
NM_000232.5:c.753+147_753+150del MANE Select NP_000223.1:n.753+147_753+150del
Search 100 bp 5'
Search 100 bp 3'