Canonical Allele Identifier: CA1048013715

Gene:

Linked Data

• dbSNP Id: rs1700428841
• gnomAD v3: 3-53057107-CT-C
• gnomAD v4: 3-53057107-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057108del , CM000665.2:g.53057108del	GRCh38
NC_000003.11:g.53091124del , CM000665.1:g.53091124del	GRCh37
NC_000003.10:g.53066164del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9869del
ENST00000607283.5:c.465-13854del
ENST00000607495.5:c.447+20580del