Canonical Allele Identifier: CA2580071061

Gene: SGCB

Linked Data

• ClinVar Variation Id: 2025299
• ClinVar RCV Id: RCV002853050

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028024_52028025insAAGCCCATAATGAA , CM000666.2:g.52028024_52028025insAAGCCCATAATGAA	GRCh38
NC_000004.11:g.52894190_52894191insAAGCCCATAATGAA , CM000666.1:g.52894190_52894191insAAGCCCATAATGAA	GRCh37
NC_000004.10:g.52588947_52588948insAAGCCCATAATGAA	NCBI36
NG_008891.1:g.15307_15308insTTTTCATTATGGGC , LRG_204:g.15307_15308insTTTTCATTATGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.708_709insTTTTCATTATGGGC MANE Select	ENSP00000370839.6:p.Lys237PhefsTer18
ENST00000381431.9:c.708_709insTTTTCATTATGGGC	ENSP00000370839.5:p.Lys237PhefsTer18
NM_000232.4:c.708_709insTTTTCATTATGGGC , LRG_204t1:c.708_709insTTTTCATTATGGGC	NP_000223.1:p.Lys237PhefsTer18
XM_006714049.2:c.411_412insTTTTCATTATGGGC	XP_006714112.1:p.Lys138PhefsTer18
XM_011534403.1:c.498_499insTTTTCATTATGGGC	XP_011532705.1:p.Lys167PhefsTer18
XM_011534404.1:c.411_412insTTTTCATTATGGGC	XP_011532706.1:p.Lys138PhefsTer18
NM_000232.5:c.708_709insTTTTCATTATGGGC MANE Select	NP_000223.1:p.Lys237PhefsTer18