Canonical Allele Identifier: CA2670614136

Gene: SGCB

Linked Data

• gnomAD v4: 4-52033357-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033359_52033360del , CM000666.2:g.52033359_52033360del	GRCh38
NC_000004.11:g.52899525_52899526del , CM000666.1:g.52899525_52899526del	GRCh37
NC_000004.10:g.52594282_52594283del	NCBI36
NG_008891.1:g.9961_9962del , LRG_204:g.9961_9962del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.243+72_243+73del MANE Select	ENSP00000370839.6:n.243+72_243+73del
ENST00000381431.9:c.243+72_243+73del	ENSP00000370839.5:n.243+72_243+73del
ENST00000506357.5:c.229+72_229+73del
ENST00000514133.1:c.210+72_210+73del	ENSP00000425818.1:n.210+72_210+73del
NM_000232.4:c.243+72_243+73del , LRG_204t1:c.243+72_243+73del	NP_000223.1:n.243+72_243+73del
XM_006714049.2:c.-165+72_-165+73del	XP_006714112.1:n.-165+72_-165+73del
XM_011534403.1:c.34-3496_34-3495del	XP_011532705.1:n.34-3496_34-3495del
XM_011534404.1:c.-142+72_-142+73del	XP_011532706.1:n.-142+72_-142+73del
NM_000232.5:c.243+72_243+73del MANE Select	NP_000223.1:n.243+72_243+73del