Canonical Allele Identifier: CA2593421736

Gene: SGCZ

Linked Data

• gnomAD v3: 8-15069908-TTTATATATCTA-T
• gnomAD v4: 8-15069908-TTTATATATCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15069912_15069922del , CM000670.2:g.15069912_15069922del	GRCh38
NC_000008.10:g.14927421_14927431del , CM000670.1:g.14927421_14927431del	GRCh37
NC_000008.9:g.14971792_14971802del	NCBI36
NG_008899.1:g.173365_173375del , LRG_208:g.173365_173375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382080.6:c.39+167666_39+167676del MANE Select	ENSP00000371512.1:n.39+167666_39+167676del
ENST00000382080.5:c.39+167666_39+167676del	ENSP00000371512.1:n.39+167666_39+167676del
NM_139167.2:c.39+167666_39+167676del , LRG_208t1:c.39+167666_39+167676del	NP_631906.2:n.39+167666_39+167676del
NM_001322879.1:c.39+167666_39+167676del	NP_001309808.1:n.39+167666_39+167676del
NM_001322880.1:c.39+167666_39+167676del	NP_001309809.1:n.39+167666_39+167676del
NM_001322881.1:c.-90+167666_-90+167676del	NP_001309810.1:n.-90+167666_-90+167676del
NM_139167.3:c.39+167666_39+167676del	NP_631906.2:n.39+167666_39+167676del
NM_139167.4:c.39+167666_39+167676del MANE Select	NP_631906.2:n.39+167666_39+167676del
NM_001322879.2:c.39+167666_39+167676del	NP_001309808.1:n.39+167666_39+167676del
NM_001322880.2:c.39+167666_39+167676del	NP_001309809.1:n.39+167666_39+167676del
NM_001322881.2:c.-90+167666_-90+167676del	NP_001309810.1:n.-90+167666_-90+167676del