Canonical Allele Identifier: CA2755300

Gene: CCDC50

Linked Data

• ClinVar Variation Id: 2982588
• ClinVar RCV Id: RCV003845219
• dbSNP Id: rs752941910
• ExAC: 3:191093056 T / TAA
• gnomAD v2: 3-191093056-T-TAA
• gnomAD v3: 3-191375267-T-TAA
• gnomAD v4: 3-191375267-T-TAA
• MyVariant Identifiers: chr3:g.191093056_191093057insAA (hg19) ; chr3:g.191375267_191375268insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375268_191375269dup , CM000665.2:g.191375268_191375269dup	GRCh38
NC_000003.11:g.191093057_191093058dup , CM000665.1:g.191093057_191093058dup	GRCh37
NC_000003.10:g.192575751_192575752dup	NCBI36
NG_008994.1:g.51184_51185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.655_656dup MANE Select	ENSP00000376249.4:p.Asn219LysfsTer30
ENST00000392456.4:c.449-4891_449-4890dup	ENSP00000376250.4:n.449-4891_449-4890dup
ENST00000392455.7:c.449-4891_449-4890dup	ENSP00000376249.3:n.449-4891_449-4890dup
ENST00000392456.3:c.655_656dup	ENSP00000376250.3:p.Asn219LysfsTer30
NM_174908.3:c.449-4891_449-4890dup	NP_777568.1:n.449-4891_449-4890dup
NM_178335.2:c.655_656dup	NP_848018.1:p.Asn219LysfsTer30
XM_011512460.1:c.655_656dup	XP_011510762.1:p.Asn219LysfsTer30
NM_178335.3:c.655_656dup MANE Select	NP_848018.1:p.Asn219LysfsTer30
NM_174908.4:c.449-4891_449-4890dup	NP_777568.1:n.449-4891_449-4890dup