Canonical Allele Identifier: CA781340769

Gene: KDSR

Linked Data

• dbSNP Id: rs1215274835
• gnomAD v3: 18-63362739-CGAA-C
• gnomAD v4: 18-63362739-CGAA-C
• MyVariant Identifiers: chr18:g.61029973_61029975del (hg19) ; chr18:g.63362740_63362742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63362744_63362746del , CM000680.2:g.63362744_63362746del	GRCh38
NC_000018.9:g.61029977_61029979del , CM000680.1:g.61029977_61029979del	GRCh37
NC_000018.8:g.59180957_59180959del	NCBI36
NG_028249.1:g.9532_9534del

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.198+37_198+39del	ENSP00000468203.2:n.198+37_198+39del
ENST00000644624.1:c.*137+37_*137+39del	ENSP00000494878.1:n.*137+37_*137+39del
ENST00000645214.2:c.198+37_198+39del MANE Select	ENSP00000494352.1:n.198+37_198+39del
ENST00000646205.1:c.*348+37_*348+39del	ENSP00000496260.1:n.*348+37_*348+39del
ENST00000326575.9:c.198+37_198+39del	ENSP00000312939.5:n.198+37_198+39del
ENST00000406396.7:c.198+37_198+39del	ENSP00000385083.2:n.198+37_198+39del
ENST00000585456.1:n.208+37_208+39del
ENST00000589530.5:n.283+37_283+39del
ENST00000592327.1:c.198+37_198+39del	ENSP00000467962.1:n.198+37_198+39del
NM_002035.2:c.198+37_198+39del	NP_002026.1:n.198+37_198+39del
XM_005266677.1:c.198+37_198+39del	XP_005266734.1:n.198+37_198+39del
XM_006722433.2:c.111+37_111+39del	XP_006722496.1:n.111+37_111+39del
NM_002035.4:c.198+37_198+39del MANE Select	NP_002026.1:n.198+37_198+39del
XM_005266677.3:c.198+37_198+39del	XP_005266734.1:n.198+37_198+39del
XM_017025690.2:c.-34+37_-34+39del	XP_016881179.1:n.-34+37_-34+39del