Canonical Allele Identifier: CA146023649

Gene:

Linked Data

• dbSNP Id: rs745744256
• gnomAD v2: 6-117771228-GA-G
• gnomAD v3: 6-117450065-GA-G
• gnomAD v4: 6-117450065-GA-G
• MyVariant Identifiers: chr6:g.117771229del (hg19) ; chr6:g.117450066del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450067del , CM000668.2:g.117450067del	GRCh38
NC_000006.11:g.117771230del , CM000668.1:g.117771230del	GRCh37
NC_000006.10:g.117877923del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116788del	ENSP00000487717.1:n.547+116788del