Canonical Allele Identifier: CA2755296

Gene: CCDC50

Linked Data

• dbSNP Id: rs767587824
• ExAC: 3:191093042 GA / G
• gnomAD v2: 3-191093042-GA-G
• gnomAD v4: 3-191375253-GA-G
• MyVariant Identifiers: chr3:g.191093043del (hg19) ; chr3:g.191375254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375254del , CM000665.2:g.191375254del	GRCh38
NC_000003.11:g.191093043del , CM000665.1:g.191093043del	GRCh37
NC_000003.10:g.192575737del	NCBI36
NG_008994.1:g.51170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.641del MANE Select	ENSP00000376249.4:p.Asp214AlafsTer?
ENST00000392456.4:c.449-4905del	ENSP00000376250.4:n.449-4905del
ENST00000392455.7:c.449-4905del	ENSP00000376249.3:n.449-4905del
ENST00000392456.3:c.641del	ENSP00000376250.3:p.Asp214AlafsTer?
NM_174908.3:c.449-4905del	NP_777568.1:n.449-4905del
NM_178335.2:c.641del	NP_848018.1:p.Asp214AlafsTer?
XM_011512460.1:c.641del	XP_011510762.1:p.Asp214AlafsTer?
NM_178335.3:c.641del MANE Select	NP_848018.1:p.Asp214AlafsTer?
NM_174908.4:c.449-4905del	NP_777568.1:n.449-4905del