Canonical Allele Identifier: CA2670614285

Gene: SGCB

Linked Data

• gnomAD v4: 4-52038083-C-CCCCCCCCCCCCCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038084_52038085insCCCCCCCCCCCCAAC , CM000666.2:g.52038084_52038085insCCCCCCCCCCCCAAC	GRCh38
NC_000004.11:g.52904250_52904251insCCCCCCCCCCCCAAC , CM000666.1:g.52904250_52904251insCCCCCCCCCCCCAAC	GRCh37
NC_000004.10:g.52599007_52599008insCCCCCCCCCCCCAAC	NCBI36
NG_008891.1:g.5236_5237insTTGGGGGGGGGGGGG , LRG_204:g.5236_5237insTTGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.33+143_33+144insTTGGGGGGGGGGGGG MANE Select	ENSP00000370839.6:n.33+143_33+144insTTGGGGGGGGGGGGG
ENST00000381431.9:c.33+143_33+144insTTGGGGGGGGGGGGG	ENSP00000370839.5:n.33+143_33+144insTTGGGGGGGGGGGGG
ENST00000506357.5:c.19+143_19+144insTTGGGGGGGGGGGGG
NM_000232.4:c.33+143_33+144insTTGGGGGGGGGGGGG , LRG_204t1:c.33+143_33+144insTTGGGGGGGGGGGGG	NP_000223.1:n.33+143_33+144insTTGGGGGGGGGGGGG
XM_011534403.1:c.33+143_33+144insTTGGGGGGGGGGGGG	XP_011532705.1:n.33+143_33+144insTTGGGGGGGGGGGGG
NM_000232.5:c.33+143_33+144insTTGGGGGGGGGGGGG MANE Select	NP_000223.1:n.33+143_33+144insTTGGGGGGGGGGGGG