Canonical Allele Identifier: CA908188457

Gene:

Linked Data

• dbSNP Id: rs1219505964
• gnomAD v3: 3-53057101-TCC-T
• gnomAD v4: 3-53057101-TCC-T
• MyVariant Identifiers: chr3:g.53091118_53091119del (hg19) ; chr3:g.53057102_53057103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057102_53057103del , CM000665.2:g.53057102_53057103del	GRCh38
NC_000003.11:g.53091118_53091119del , CM000665.1:g.53091118_53091119del	GRCh37
NC_000003.10:g.53066158_53066159del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9864_318-9863del
ENST00000607283.5:c.465-13849_465-13848del
ENST00000607495.5:c.447+20585_447+20586del