Canonical Allele Identifier: CA2504443631
Gene: CHST3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008209_72008210del , CM000672.2:g.72008209_72008210del GRCh38
NC_000010.10:g.73767967_73767968del , CM000672.1:g.73767967_73767968del GRCh37
NC_000010.9:g.73437973_73437974del NCBI36
NG_012635.1:g.48848_48849del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1178_1179del MANE Select ENSP00000362207.4:p.Leu393HisfsTer?
ENST00000373115.4:c.1178_1179del ENSP00000362207.4:p.Leu393HisfsTer?
NM_004273.4:c.1178_1179del NP_004264.2:p.Leu393HisfsTer?
XM_006718075.2:c.1178_1179del XP_006718138.1:p.Leu393HisfsTer?
XM_011540369.1:c.1178_1179del XP_011538671.1:p.Leu393HisfsTer?
XM_006718075.4:c.1178_1179del XP_006718138.1:p.Leu393HisfsTer?
XM_011540369.2:c.1178_1179del XP_011538671.1:p.Leu393HisfsTer?
NM_004273.5:c.1178_1179del MANE Select NP_004264.2:p.Leu393HisfsTer?