Canonical Allele Identifier: CA345687

Gene: MRPL23

Linked Data

• ClinVar Variation Id: 96744
• ClinVar RCV Id: RCV000128481
• dbSNP Id: rs431825165
• MyVariant Identifiers: chr11:g.2022993_2023013del (hg19) ; chr11:g.2001763_2001783del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2001775_2001795del , CM000673.2:g.2001775_2001795del	GRCh38
NC_000011.9:g.2023005_2023025del , CM000673.1:g.2023005_2023025del	GRCh37
NC_000011.8:g.1979581_1979601del	NCBI36
NG_016165.1:g.1053_1073del

Transcript Alleles

HGVS	Amino-acid Change
XM_011520273.1:c.498-9766_498-9746del	XP_011518575.1:n.498-9766_498-9746del
XM_011520274.1:c.492-9766_492-9746del	XP_011518576.1:n.492-9766_492-9746del
XM_011520275.1:c.498-9766_498-9746del	XP_011518577.1:n.498-9766_498-9746del
XM_011520275.2:c.498-9766_498-9746del	XP_011518577.1:n.498-9766_498-9746del
NM_001400176.1:c.498-9766_498-9746del	NP_001387105.1:n.498-9766_498-9746del