Canonical Allele Identifier: CA813569870

Gene:

Linked Data

• dbSNP Id: rs1378397763
• gnomAD v3: 5-70049504-GAA-G
• gnomAD v4: 5-70049504-GAA-G
• MyVariant Identifiers: chr5:g.69345332_69345333del (hg19) ; chr5:g.70049505_70049506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049506_70049507del , CM000667.2:g.70049506_70049507del	GRCh38
NC_000005.9:g.69345333_69345334del , CM000667.1:g.69345333_69345334del	GRCh37
NC_000005.8:g.69381089_69381090del	NCBI36
NG_008728.1:g.4984_4985del

Transcript Alleles

HGVS	Amino-acid Change
XR_948432.1:n.1054+61502_1054+61503del