Canonical Allele Identifier: CA571284336

Gene: SAMD5

Linked Data

• gnomAD v2: 6-148117231-C-CT
• MyVariant Identifiers: chr6:g.148117231_148117232insT (hg19) ; chr6:g.147796095_147796096insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147796099dup , CM000668.2:g.147796099dup	GRCh38
NC_000006.11:g.148117235dup , CM000668.1:g.148117235dup	GRCh37
NC_000006.10:g.148158928dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017010850.1:c.460-151373dup	XP_016866339.1:n.460-151373dup