Canonical Allele Identifier: CA107748616

Gene:

Linked Data

• dbSNP Id: rs889411358
• gnomAD v2: 4-145480603-GA-G
• gnomAD v3: 4-144559451-GA-G
• gnomAD v4: 4-144559451-GA-G
• MyVariant Identifiers: chr4:g.145480604del (hg19) ; chr4:g.144559452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559458del , CM000666.2:g.144559458del	GRCh38
NC_000004.11:g.145480610del , CM000666.1:g.145480610del	GRCh37
NC_000004.10:g.145700060del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143474del	ENSP00000497507.1:n.328-143474del
XR_939272.1:n.178+2532del
XR_939273.1:n.178+2532del
XR_939272.2:n.522+2532del
XR_939273.2:n.522+2532del