Canonical Allele Identifier: CA520691648

Gene:

Linked Data

• dbSNP Id: rs1251401465
• gnomAD v2: 1-2498893-AC-A
• gnomAD v3: 1-2567454-AC-A
• gnomAD v4: 1-2567454-AC-A
• MyVariant Identifiers: chr1:g.2498894del (hg19) ; chr1:g.2567455del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2567459del , CM000663.2:g.2567459del	GRCh38
NC_000001.10:g.2498898del , CM000663.1:g.2498898del	GRCh37
NC_000001.9:g.2475524del	NCBI36
NG_047096.1:g.16095del

Transcript Alleles

HGVS	Amino-acid Change
NR_121638.1:n.71+854del