Canonical Allele Identifier: CA729343662

Gene:

Linked Data

• dbSNP Id: rs1193972405
• gnomAD v3: 1-193121716-CA-C
• gnomAD v4: 1-193121716-CA-C
• MyVariant Identifiers: chr1:g.193090847del (hg19) ; chr1:g.193121717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121717del , CM000663.2:g.193121717del	GRCh38
NC_000001.10:g.193090847del , CM000663.1:g.193090847del	GRCh37
NC_000001.9:g.191357470del	NCBI36
NG_012691.1:g.4760del , LRG_507:g.4760del

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1940del