Canonical Allele Identifier: CA208683050

Gene: REEP3

Linked Data

• dbSNP Id: rs1028736430
• gnomAD v3: 10-63577481-TG-T
• gnomAD v4: 10-63577481-TG-T
• MyVariant Identifiers: chr10:g.65337242del (hg19) ; chr10:g.63577482del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.63577483del , CM000672.2:g.63577483del	GRCh38
NC_000010.10:g.65337243del , CM000672.1:g.65337243del	GRCh37
NC_000010.9:g.65007249del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373758.5:c.105+11073del MANE Select	ENSP00000362863.4:n.105+11073del
ENST00000373758.4:c.105+11073del	ENSP00000362863.4:n.105+11073del
NM_001001330.2:c.105+11073del	NP_001001330.1:n.105+11073del
XM_011539501.1:c.105+11073del	XP_011537803.1:n.105+11073del
XM_011539501.2:c.105+11073del	XP_011537803.1:n.105+11073del
XM_017015896.1:c.105+11073del	XP_016871385.1:n.105+11073del
NM_001001330.3:c.105+11073del MANE Select	NP_001001330.1:n.105+11073del