Canonical Allele Identifier: CA2788492382
Gene: CHST3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008236_72008239del , CM000672.2:g.72008236_72008239del GRCh38
NC_000010.10:g.73767994_73767997del , CM000672.1:g.73767994_73767997del GRCh37
NC_000010.9:g.73438000_73438003del NCBI36
NG_012635.1:g.48875_48878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1205_1208del MANE Select ENSP00000362207.4:p.Gln402ArgfsTer?
ENST00000373115.4:c.1205_1208del ENSP00000362207.4:p.Gln402ArgfsTer?
NM_004273.4:c.1205_1208del NP_004264.2:p.Gln402ArgfsTer?
XM_006718075.2:c.1205_1208del XP_006718138.1:p.Gln402ArgfsTer?
XM_011540369.1:c.1205_1208del XP_011538671.1:p.Gln402ArgfsTer?
XM_006718075.4:c.1205_1208del XP_006718138.1:p.Gln402ArgfsTer?
XM_011540369.2:c.1205_1208del XP_011538671.1:p.Gln402ArgfsTer?
NM_004273.5:c.1205_1208del MANE Select NP_004264.2:p.Gln402ArgfsTer?