Canonical Allele Identifier: CA753479403

Gene: SAMM50

Linked Data

• dbSNP Id: rs1335677634
• MyVariant Identifiers: chr22:g.44394437_44394442del (hg19) ; chr22:g.43998557_43998562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43998557_43998562del , CM000684.2:g.43998557_43998562del	GRCh38
NC_000022.10:g.44394437_44394442del , CM000684.1:g.44394437_44394442del	GRCh37
NC_000022.9:g.42725770_42725775del	NCBI36
NG_029743.1:g.4347_4352del
NG_029743.2:g.4347_4352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465768.1:n.79+8151_79+8156del