Canonical Allele Identifier: CA807545699

Gene: SMIM23

Linked Data

• dbSNP Id: rs1487675645
• gnomAD v3: 5-171776467-GC-G
• gnomAD v4: 5-171776467-GC-G
• MyVariant Identifiers: chr5:g.171203472del (hg19) ; chr5:g.171776468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171776469del , CM000667.2:g.171776469del	GRCh38
NC_000005.9:g.171203473del , CM000667.1:g.171203473del	GRCh37
NC_000005.8:g.171136078del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011534623.1:c.3+2511del	XP_011532925.1:n.3+2511del
XM_011534624.1:c.3+2511del	XP_011532926.1:n.3+2511del
XM_011534623.2:c.3+2511del	XP_011532925.1:n.3+2511del
XM_011534624.2:c.3+2511del	XP_011532926.1:n.3+2511del