Canonical Allele Identifier: CA915945962

Gene: CHST3

Linked Data

• ClinVar Variation Id: 694680
• ClinVar RCV Id: RCV000856732
• dbSNP Id: rs1589510055
• gnomAD v4: 10-72008283-CAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72008288_72008290del , CM000672.2:g.72008288_72008290del	GRCh38
NC_000010.10:g.73768046_73768048del , CM000672.1:g.73768046_73768048del	GRCh37
NC_000010.9:g.73438052_73438054del	NCBI36
NG_012635.1:g.48927_48929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.1257_1259del MANE Select	ENSP00000362207.4:p.Lys419del
ENST00000373115.4:c.1257_1259del	ENSP00000362207.4:p.Lys419del
NM_004273.4:c.1257_1259del	NP_004264.2:p.Lys419del
XM_006718075.2:c.1257_1259del	XP_006718138.1:p.Lys419del
XM_011540369.1:c.1257_1259del	XP_011538671.1:p.Lys419del
XM_006718075.4:c.1257_1259del	XP_006718138.1:p.Lys419del
XM_011540369.2:c.1257_1259del	XP_011538671.1:p.Lys419del
NM_004273.5:c.1257_1259del MANE Select	NP_004264.2:p.Lys419del