Canonical Allele Identifier: CA2670614347

Gene: SGCB

Linked Data

• gnomAD v4: 4-52038094-C-CCCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038094_52038095insCCAAA , CM000666.2:g.52038094_52038095insCCAAA	GRCh38
NC_000004.11:g.52904260_52904261insCCAAA , CM000666.1:g.52904260_52904261insCCAAA	GRCh37
NC_000004.10:g.52599017_52599018insCCAAA	NCBI36
NG_008891.1:g.5225_5226insTTTGG , LRG_204:g.5225_5226insTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.33+132_33+133insTTTGG MANE Select	ENSP00000370839.6:n.33+132_33+133insTTTGG
ENST00000381431.9:c.33+132_33+133insTTTGG	ENSP00000370839.5:n.33+132_33+133insTTTGG
ENST00000506357.5:c.19+132_19+133insTTTGG
NM_000232.4:c.33+132_33+133insTTTGG , LRG_204t1:c.33+132_33+133insTTTGG	NP_000223.1:n.33+132_33+133insTTTGG
XM_011534403.1:c.33+132_33+133insTTTGG	XP_011532705.1:n.33+132_33+133insTTTGG
NM_000232.5:c.33+132_33+133insTTTGG MANE Select	NP_000223.1:n.33+132_33+133insTTTGG