Canonical Allele Identifier: CA2918530
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs748388039
ExAC: 4:52904463 T / TA
gnomAD v2: 4-52904463-T-TA
gnomAD v4: 4-52038297-T-TA
MyVariant Identifiers: chr4:g.52904463_52904464insA (hg19) chr4:g.52038297_52038298insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038297_52038298insA , CM000666.2:g.52038297_52038298insA GRCh38
NC_000004.11:g.52904463_52904464insA , CM000666.1:g.52904463_52904464insA GRCh37
NC_000004.10:g.52599220_52599221insA NCBI36
NG_008891.1:g.5022_5023insT , LRG_204:g.5022_5023insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-39_-38insT MANE Select ENSP00000370839.6:n.-39_-38insT
ENST00000381431.9:c.-39_-38insT ENSP00000370839.5:n.-39_-38insT
NM_000232.4:c.-39_-38insT , LRG_204t1:c.-39_-38insT NP_000223.1:n.-39_-38insT
XM_011534403.1:c.-39_-38insT XP_011532705.1:n.-39_-38insT
NM_000232.5:c.-39_-38insT MANE Select NP_000223.1:n.-39_-38insT
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