Canonical Allele Identifier: CA551344177
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737458517
gnomAD v2: 4-52904450-CTCCCCGCCCGACTG-C
gnomAD v4: 4-52038284-CTCCCCGCCCGACTG-C
MyVariant Identifiers: chr4:g.52904451_52904464del (hg19) chr4:g.52038285_52038298del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038286_52038299del , CM000666.2:g.52038286_52038299del GRCh38
NC_000004.11:g.52904452_52904465del , CM000666.1:g.52904452_52904465del GRCh37
NC_000004.10:g.52599209_52599222del NCBI36
NG_008891.1:g.5022_5035del , LRG_204:g.5022_5035del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-39_-26del MANE Select ENSP00000370839.6:n.-39_-26del
ENST00000381431.9:c.-39_-26del ENSP00000370839.5:n.-39_-26del
NM_000232.4:c.-39_-26del , LRG_204t1:c.-39_-26del NP_000223.1:n.-39_-26del
NM_000232.5:c.-39_-26del MANE Select NP_000223.1:n.-39_-26del
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