Canonical Allele Identifier: CA2670599138

Gene: SGCB

Linked Data

• gnomAD v4: 4-52029679-G-GTTAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029679_52029680insTTAAT , CM000666.2:g.52029679_52029680insTTAAT	GRCh38
NC_000004.11:g.52895845_52895846insTTAAT , CM000666.1:g.52895845_52895846insTTAAT	GRCh37
NC_000004.10:g.52590602_52590603insTTAAT	NCBI36
NG_008891.1:g.13640_13641insATTAA , LRG_204:g.13640_13641insATTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.427_428insATTAA MANE Select	ENSP00000370839.6:p.Pro143HisfsTer2
ENST00000381431.9:c.427_428insATTAA	ENSP00000370839.5:p.Pro143HisfsTer2
ENST00000506357.5:c.510_511insATTAA
ENST00000514133.1:c.504_505insATTAA	ENSP00000425818.1:n.504_505insATTAA
NM_000232.4:c.427_428insATTAA , LRG_204t1:c.427_428insATTAA	NP_000223.1:p.Pro143HisfsTer2
XM_006714049.2:c.130_131insATTAA	XP_006714112.1:p.Pro44HisfsTer2
XM_011534403.1:c.217_218insATTAA	XP_011532705.1:p.Pro73HisfsTer2
XM_011534404.1:c.130_131insATTAA	XP_011532706.1:p.Pro44HisfsTer2
NM_000232.5:c.427_428insATTAA MANE Select	NP_000223.1:p.Pro143HisfsTer2