Canonical Allele Identifier: CA10617785
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348861
ClinVar RCV Id: RCV000325758 RCV000382420
dbSNP Id: rs147275302
gnomAD v2: 4-52888156-TTAAA-T
gnomAD v3: 4-52021990-TTAAA-T
gnomAD v4: 4-52021990-TTAAA-T
MyVariant Identifiers: chr4:g.52888157_52888160del (hg19) chr4:g.52021991_52021994del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52021995_52021998del , CM000666.2:g.52021995_52021998del GRCh38
NC_000004.11:g.52888161_52888164del , CM000666.1:g.52888161_52888164del GRCh37
NC_000004.10:g.52582918_52582921del NCBI36
NG_008891.1:g.21326_21329del , LRG_204:g.21326_21329del
NG_053164.1:g.3318_3321del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.*1963_*1966del MANE Select ENSP00000370839.6:n.*1963_*1966del
ENST00000381431.9:c.*1963_*1966del ENSP00000370839.5:n.*1963_*1966del
NM_000232.4:c.*1963_*1966del , LRG_204t1:c.*1963_*1966del NP_000223.1:n.*1963_*1966del
XM_006714049.2:c.*1963_*1966del XP_006714112.1:n.*1963_*1966del
XM_011534403.1:c.*1963_*1966del XP_011532705.1:n.*1963_*1966del
XM_011534404.1:c.*1963_*1966del XP_011532706.1:n.*1963_*1966del
NM_000232.5:c.*1963_*1966del MANE Select NP_000223.1:n.*1963_*1966del
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