Canonical Allele Identifier: CA10621057

Gene: SGCD

Linked Data

• ClinVar Variation Id: 352427
• ClinVar RCV Id: RCV000269904 ; RCV000305178 ; RCV000359809
• dbSNP Id: rs886060317
• MyVariant Identifiers: chr5:g.156193062del (hg19) ; chr5:g.156766051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156766051del , CM000667.2:g.156766051del	GRCh38
NC_000005.9:g.156193062del , CM000667.1:g.156193062del	GRCh37
NC_000005.8:g.156125640del	NCBI36
NG_008693.2:g.900709del , LRG_205:g.900709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.*6661del MANE Select	ENSP00000338343.4:n.*6661del
ENST00000435422.7:c.*6661del	ENSP00000403003.2:n.*6661del
NM_000337.5:c.*6661del , LRG_205t1:c.*6661del	NP_000328.2:n.*6661del
NM_001128209.1:c.*6661del	NP_001121681.1:n.*6661del
XM_005265966.3:c.*6661del	XP_005266023.1:n.*6661del
XM_006714911.2:c.*6661del	XP_006714974.1:n.*6661del
XM_011534621.1:c.*6661del	XP_011532923.1:n.*6661del
NM_001128209.2:c.*6661del	NP_001121681.1:n.*6661del
NM_000337.6:c.*6661del MANE Select	NP_000328.2:n.*6661del