Canonical Allele Identifier: CA796086823
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1425756030
gnomAD v3: 4-52027643-AGAG-A
gnomAD v4: 4-52027643-AGAG-A
MyVariant Identifiers: chr4:g.52893810_52893812del (hg19) chr4:g.52027644_52027646del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027644_52027646del , CM000666.2:g.52027644_52027646del GRCh38
NC_000004.11:g.52893810_52893812del , CM000666.1:g.52893810_52893812del GRCh37
NC_000004.10:g.52588567_52588569del NCBI36
NG_008891.1:g.15674_15676del , LRG_204:g.15674_15676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.753+322_753+324del MANE Select ENSP00000370839.6:n.753+322_753+324del
ENST00000381431.9:c.753+322_753+324del ENSP00000370839.5:n.753+322_753+324del
NM_000232.4:c.753+322_753+324del , LRG_204t1:c.753+322_753+324del NP_000223.1:n.753+322_753+324del
XM_006714049.2:c.456+322_456+324del XP_006714112.1:n.456+322_456+324del
XM_011534403.1:c.543+322_543+324del XP_011532705.1:n.543+322_543+324del
XM_011534404.1:c.456+322_456+324del XP_011532706.1:n.456+322_456+324del
NM_000232.5:c.753+322_753+324del MANE Select NP_000223.1:n.753+322_753+324del
Search 100 bp 5'
Search 100 bp 3'