Canonical Allele Identifier: CA2574581751
Gene: CHST3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007743_72007745dup , CM000672.2:g.72007743_72007745dup GRCh38
NC_000010.10:g.73767501_73767503dup , CM000672.1:g.73767501_73767503dup GRCh37
NC_000010.9:g.73437507_73437509dup NCBI36
NG_012635.1:g.48382_48384dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.712_714dup MANE Select ENSP00000362207.4:p.Val238_Lys239insVal
ENST00000373115.4:c.712_714dup ENSP00000362207.4:p.Val238_Lys239insVal
NM_004273.4:c.712_714dup NP_004264.2:p.Val238_Lys239insVal
XM_006718075.2:c.712_714dup XP_006718138.1:p.Val238_Lys239insVal
XM_011540369.1:c.712_714dup XP_011538671.1:p.Val238_Lys239insVal
XM_006718075.4:c.712_714dup XP_006718138.1:p.Val238_Lys239insVal
XM_011540369.2:c.712_714dup XP_011538671.1:p.Val238_Lys239insVal
NM_004273.5:c.712_714dup MANE Select NP_004264.2:p.Val238_Lys239insVal