Canonical Allele Identifier: CA1048013718

Gene:

Linked Data

• gnomAD v3: 3-53057117-C-CG
• gnomAD v4: 3-53057117-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057117_53057118insG , CM000665.2:g.53057117_53057118insG	GRCh38
NC_000003.11:g.53091133_53091134insG , CM000665.1:g.53091133_53091134insG	GRCh37
NC_000003.10:g.53066173_53066174insG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9879_318-9878insC
ENST00000607283.5:c.465-13864_465-13863insC
ENST00000607495.5:c.447+20570_447+20571insC