Canonical Allele Identifier: CA2918302

Gene: SGCB

Linked Data

• ClinVar Variation Id: 466607
• ClinVar RCV Id: RCV000550615 ; RCV001081576
• dbSNP Id: rs138604476
• ExAC: 4:52894121 AAAG / A
• gnomAD v2: 4-52894121-AAAG-A
• gnomAD v3: 4-52027955-AAAG-A
• gnomAD v4: 4-52027955-AAAG-A
• MyVariant Identifiers: chr4:g.52894122_52894124del (hg19) ; chr4:g.52027956_52027958del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027958_52027960del , CM000666.2:g.52027958_52027960del	GRCh38
NC_000004.11:g.52894124_52894126del , CM000666.1:g.52894124_52894126del	GRCh37
NC_000004.10:g.52588881_52588883del	NCBI36
NG_008891.1:g.15362_15364del , LRG_204:g.15362_15364del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.753+10_753+12del MANE Select	ENSP00000370839.6:n.753+10_753+12del
ENST00000381431.9:c.753+10_753+12del	ENSP00000370839.5:n.753+10_753+12del
NM_000232.4:c.753+10_753+12del , LRG_204t1:c.753+10_753+12del	NP_000223.1:n.753+10_753+12del
XM_006714049.2:c.456+10_456+12del	XP_006714112.1:n.456+10_456+12del
XM_011534403.1:c.543+10_543+12del	XP_011532705.1:n.543+10_543+12del
XM_011534404.1:c.456+10_456+12del	XP_011532706.1:n.456+10_456+12del
NM_000232.5:c.753+10_753+12del MANE Select	NP_000223.1:n.753+10_753+12del