Canonical Allele Identifier: CA1026114939

Gene: SAMM50

Linked Data

• dbSNP Id: rs2050379280
• gnomAD v3: 22-43998549-TTCA-T
• gnomAD v4: 22-43998549-TTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43998553_43998555del , CM000684.2:g.43998553_43998555del	GRCh38
NC_000022.10:g.44394433_44394435del , CM000684.1:g.44394433_44394435del	GRCh37
NC_000022.9:g.42725766_42725768del	NCBI36
NG_029743.1:g.4343_4345del
NG_029743.2:g.4343_4345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465768.1:n.79+8147_79+8149del