Canonical Allele Identifier: CA2632821130

Gene:

Linked Data

• gnomAD v4: 16-31090806-GGAGGCCCAGCACCACAGTCCATGGCAGACACATGGTTCAGACTTGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090809_31090856del , CM000678.2:g.31090809_31090856del	GRCh38
NC_000016.9:g.31102130_31102177del , CM000678.1:g.31102130_31102177del	GRCh37
NC_000016.8:g.31009631_31009678del	NCBI36
NG_011564.1:g.9102_9149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2458_283+2505del	ENSP00000431371.1:n.283+2458_283+2505del
ENST00000532364.1:c.173+3703_173+3750del	ENSP00000460316.1:n.173+3703_173+3750del
ENST00000533518.5:c.407+238_407+285del