Canonical Allele Identifier: CA1779769328
Gene: HGSNAT HGNC NCBI

Linked Data

dbSNP Id: rs1195071928

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43173321_43173326del , CM000670.2:g.43173321_43173326del GRCh38
NC_000008.10:g.43028464_43028469del , CM000670.1:g.43028464_43028469del GRCh37
NC_000008.9:g.43147621_43147626del NCBI36
NG_009552.1:g.37873_37878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379644.9:c.821-392_821-387del MANE Select ENSP00000368965.4:n.821-392_821-387del
ENST00000379644.8:c.821-392_821-387del ENSP00000368965.4:n.821-392_821-387del
ENST00000520704.1:c.*270-392_*270-387del ENSP00000429109.1:n.*270-392_*270-387del
ENST00000522082.5:c.62-392_62-387del ENSP00000430151.1:n.62-392_62-387del
NM_152419.2:c.821-392_821-387del NP_689632.2:n.821-392_821-387del
XM_005273409.1:c.821-392_821-387del XP_005273466.1:n.821-392_821-387del
XM_005273410.1:c.821-392_821-387del XP_005273467.1:n.821-392_821-387del
XM_005273411.1:c.820+935_820+940del XP_005273468.1:n.820+935_820+940del
XM_005273412.2:c.821-392_821-387del XP_005273469.1:n.821-392_821-387del
NM_001363227.1:c.821-392_821-387del NP_001350156.1:n.821-392_821-387del
NM_001363228.1:c.820+935_820+940del NP_001350157.1:n.820+935_820+940del
NM_001363229.1:c.-14+935_-14+940del NP_001350158.1:n.-14+935_-14+940del
XM_005273412.4:c.821-392_821-387del XP_005273469.1:n.821-392_821-387del
NM_152419.3:c.821-392_821-387del MANE Select NP_689632.2:n.821-392_821-387del
NM_001363227.2:c.821-392_821-387del NP_001350156.1:n.821-392_821-387del
NM_001363228.2:c.820+935_820+940del NP_001350157.1:n.820+935_820+940del
NM_001363229.2:c.-14+935_-14+940del NP_001350158.1:n.-14+935_-14+940del