Canonical Allele Identifier: CA2669072418

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191375397-A-ATAGAGCTTGACTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375397_191375398insTAGAGCTTGACTGG , CM000665.2:g.191375397_191375398insTAGAGCTTGACTGG	GRCh38
NC_000003.11:g.191093186_191093187insTAGAGCTTGACTGG , CM000665.1:g.191093186_191093187insTAGAGCTTGACTGG	GRCh37
NC_000003.10:g.192575880_192575881insTAGAGCTTGACTGG	NCBI36
NG_008994.1:g.51313_51314insTAGAGCTTGACTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.784_785insTAGAGCTTGACTGG MANE Select	ENSP00000376249.4:p.Thr262IlefsTer?
ENST00000392456.4:c.449-4762_449-4761insTAGAGCTTGACTGG	ENSP00000376250.4:n.449-4762_449-4761insTAGAGCTTGACTGG
ENST00000392455.7:c.449-4762_449-4761insTAGAGCTTGACTGG	ENSP00000376249.3:n.449-4762_449-4761insTAGAGCTTGACTGG
ENST00000392456.3:c.784_785insTAGAGCTTGACTGG	ENSP00000376250.3:p.Thr262IlefsTer?
NM_174908.3:c.449-4762_449-4761insTAGAGCTTGACTGG	NP_777568.1:n.449-4762_449-4761insTAGAGCTTGACTGG
NM_178335.2:c.784_785insTAGAGCTTGACTGG	NP_848018.1:p.Thr262IlefsTer?
XM_011512460.1:c.784_785insTAGAGCTTGACTGG	XP_011510762.1:p.Thr262IlefsTer?
NM_178335.3:c.784_785insTAGAGCTTGACTGG MANE Select	NP_848018.1:p.Thr262IlefsTer?
NM_174908.4:c.449-4762_449-4761insTAGAGCTTGACTGG	NP_777568.1:n.449-4762_449-4761insTAGAGCTTGACTGG