Canonical Allele Identifier: CA2574581796
Gene: CHST3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007854_72007856dup , CM000672.2:g.72007854_72007856dup GRCh38
NC_000010.10:g.73767612_73767614dup , CM000672.1:g.73767612_73767614dup GRCh37
NC_000010.9:g.73437618_73437620dup NCBI36
NG_012635.1:g.48493_48495dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.823_825dup MANE Select ENSP00000362207.4:p.Val275_Arg276insVal
ENST00000373115.4:c.823_825dup ENSP00000362207.4:p.Val275_Arg276insVal
NM_004273.4:c.823_825dup NP_004264.2:p.Val275_Arg276insVal
XM_006718075.2:c.823_825dup XP_006718138.1:p.Val275_Arg276insVal
XM_011540369.1:c.823_825dup XP_011538671.1:p.Val275_Arg276insVal
XM_006718075.4:c.823_825dup XP_006718138.1:p.Val275_Arg276insVal
XM_011540369.2:c.823_825dup XP_011538671.1:p.Val275_Arg276insVal
NM_004273.5:c.823_825dup MANE Select NP_004264.2:p.Val275_Arg276insVal