Canonical Allele Identifier: CA746652422

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1338296431
• MyVariant Identifiers: chr20:g.744079_744081del (hg19) ; chr20:g.763435_763437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763435_763437del , CM000682.2:g.763435_763437del	GRCh38
NC_000020.10:g.744079_744081del , CM000682.1:g.744079_744081del	GRCh37
NC_000020.9:g.692079_692081del	NCBI36
NG_027687.1:g.10148_10150del
NG_027687.2:g.17549_17551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.1073+61_1073+63del	ENSP00000371370.3:n.1073+61_1073+63del
ENST00000473664.2:c.568-1613_568-1611del	ENSP00000502741.1:n.568-1613_568-1611del
ENST00000488495.3:c.1073+61_1073+63del	ENSP00000494009.1:n.1073+61_1073+63del
ENST00000645534.1:c.1073+61_1073+63del MANE Select	ENSP00000494193.1:n.1073+61_1073+63del
ENST00000675066.1:c.*39_*41del	ENSP00000501902.1:n.*39_*41del
ENST00000217254.11:c.1073+61_1073+63del	ENSP00000217254.7:n.1073+61_1073+63del
ENST00000381944.4:c.1073+61_1073+63del	ENSP00000371370.3:n.1073+61_1073+63del
ENST00000473664.1:n.619-1613_619-1611del
ENST00000632431.1:c.1073+61_1073+63del	ENSP00000488723.1:n.1073+61_1073+63del
NM_033409.3:c.1073+61_1073+63del	NP_212134.3:n.1073+61_1073+63del
XM_005260655.3:c.1073+61_1073+63del	XP_005260712.1:n.1073+61_1073+63del
XM_011529148.1:c.1073+61_1073+63del	XP_011527450.1:n.1073+61_1073+63del
XM_005260655.4:c.1073+61_1073+63del	XP_005260712.1:n.1073+61_1073+63del
XM_024451821.1:c.1073+61_1073+63del	XP_024307589.1:n.1073+61_1073+63del
NM_033409.4:c.1073+61_1073+63del MANE Select	NP_212134.3:n.1073+61_1073+63del
NM_001370085.1:c.1073+61_1073+63del	NP_001357014.1:n.1073+61_1073+63del
NM_001370086.1:c.1073+61_1073+63del	NP_001357015.1:n.1073+61_1073+63del