Canonical Allele Identifier: CA2578086717
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038130-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038136del , CM000666.2:g.52038136del GRCh38
NC_000004.11:g.52904302del , CM000666.1:g.52904302del GRCh37
NC_000004.10:g.52599059del NCBI36
NG_008891.1:g.5189del , LRG_204:g.5189del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.33+96del MANE Select ENSP00000370839.6:n.33+96del
ENST00000381431.9:c.33+96del ENSP00000370839.5:n.33+96del
ENST00000506357.5:c.19+96del
NM_000232.4:c.33+96del , LRG_204t1:c.33+96del NP_000223.1:n.33+96del
XM_011534403.1:c.33+96del XP_011532705.1:n.33+96del
NM_000232.5:c.33+96del MANE Select NP_000223.1:n.33+96del
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