Canonical Allele Identifier: CA849004343

Gene: SGCZ

Linked Data

• dbSNP Id: rs1476891071
• MyVariant Identifiers: chr8:g.14927270_14927272del (hg19) ; chr8:g.15069761_15069763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069762_15069764del , CM000670.2:g.15069762_15069764del	GRCh38
NC_000008.10:g.14927271_14927273del , CM000670.1:g.14927271_14927273del	GRCh37
NC_000008.9:g.14971642_14971644del	NCBI36
NG_008899.1:g.173521_173523del , LRG_208:g.173521_173523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382080.6:c.39+167822_39+167824del MANE Select	ENSP00000371512.1:n.39+167822_39+167824del
ENST00000382080.5:c.39+167822_39+167824del	ENSP00000371512.1:n.39+167822_39+167824del
NM_139167.2:c.39+167822_39+167824del , LRG_208t1:c.39+167822_39+167824del	NP_631906.2:n.39+167822_39+167824del
NM_001322879.1:c.39+167822_39+167824del	NP_001309808.1:n.39+167822_39+167824del
NM_001322880.1:c.39+167822_39+167824del	NP_001309809.1:n.39+167822_39+167824del
NM_001322881.1:c.-90+167822_-90+167824del	NP_001309810.1:n.-90+167822_-90+167824del
NM_139167.3:c.39+167822_39+167824del	NP_631906.2:n.39+167822_39+167824del
NM_139167.4:c.39+167822_39+167824del MANE Select	NP_631906.2:n.39+167822_39+167824del
NM_001322879.2:c.39+167822_39+167824del	NP_001309808.1:n.39+167822_39+167824del
NM_001322880.2:c.39+167822_39+167824del	NP_001309809.1:n.39+167822_39+167824del
NM_001322881.2:c.-90+167822_-90+167824del	NP_001309810.1:n.-90+167822_-90+167824del