Canonical Allele Identifier: CA976332632

Gene:

Linked Data

• dbSNP Id: rs2057282812
• gnomAD v3: 16-31090818-CCA-C
• gnomAD v4: 16-31090818-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090821_31090822del , CM000678.2:g.31090821_31090822del	GRCh38
NC_000016.9:g.31102142_31102143del , CM000678.1:g.31102142_31102143del	GRCh37
NC_000016.8:g.31009643_31009644del	NCBI36
NG_011564.1:g.9136_9137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2492_283+2493del	ENSP00000431371.1:n.283+2492_283+2493del
ENST00000532364.1:c.173+3737_173+3738del	ENSP00000460316.1:n.173+3737_173+3738del
ENST00000533518.5:c.407+272_407+273del