Canonical Allele Identifier: CA2779171763
Gene: SGCZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.15069887_15069898del , CM000670.2:g.15069887_15069898del GRCh38
NC_000008.10:g.14927396_14927407del , CM000670.1:g.14927396_14927407del GRCh37
NC_000008.9:g.14971767_14971778del NCBI36
NG_008899.1:g.173387_173398del , LRG_208:g.173387_173398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382080.6:c.39+167688_39+167699del MANE Select ENSP00000371512.1:n.39+167688_39+167699del
ENST00000382080.5:c.39+167688_39+167699del ENSP00000371512.1:n.39+167688_39+167699del
NM_139167.2:c.39+167688_39+167699del , LRG_208t1:c.39+167688_39+167699del NP_631906.2:n.39+167688_39+167699del
NM_001322879.1:c.39+167688_39+167699del NP_001309808.1:n.39+167688_39+167699del
NM_001322880.1:c.39+167688_39+167699del NP_001309809.1:n.39+167688_39+167699del
NM_001322881.1:c.-90+167688_-90+167699del NP_001309810.1:n.-90+167688_-90+167699del
NM_139167.3:c.39+167688_39+167699del NP_631906.2:n.39+167688_39+167699del
NM_139167.4:c.39+167688_39+167699del MANE Select NP_631906.2:n.39+167688_39+167699del
NM_001322879.2:c.39+167688_39+167699del NP_001309808.1:n.39+167688_39+167699del
NM_001322880.2:c.39+167688_39+167699del NP_001309809.1:n.39+167688_39+167699del
NM_001322881.2:c.-90+167688_-90+167699del NP_001309810.1:n.-90+167688_-90+167699del