Canonical Allele Identifier: CA2670599129

Gene: SGCB

Linked Data

• gnomAD v4: 4-52029659-AGTTAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029662_52029667del , CM000666.2:g.52029662_52029667del	GRCh38
NC_000004.11:g.52895828_52895833del , CM000666.1:g.52895828_52895833del	GRCh37
NC_000004.10:g.52590585_52590590del	NCBI36
NG_008891.1:g.13655_13660del , LRG_204:g.13655_13660del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.429+13_429+18del MANE Select	ENSP00000370839.6:n.429+13_429+18del
ENST00000381431.9:c.429+13_429+18del	ENSP00000370839.5:n.429+13_429+18del
ENST00000506357.5:c.512+13_512+18del
ENST00000514133.1:c.506+13_506+18del	ENSP00000425818.1:n.506+13_506+18del
NM_000232.4:c.429+13_429+18del , LRG_204t1:c.429+13_429+18del	NP_000223.1:n.429+13_429+18del
XM_006714049.2:c.132+13_132+18del	XP_006714112.1:n.132+13_132+18del
XM_011534403.1:c.219+13_219+18del	XP_011532705.1:n.219+13_219+18del
XM_011534404.1:c.132+13_132+18del	XP_011532706.1:n.132+13_132+18del
NM_000232.5:c.429+13_429+18del MANE Select	NP_000223.1:n.429+13_429+18del