Canonical Allele Identifier: CA1429222159

Gene: CCDC50

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375180_191375181delinsGA , CM000665.2:g.191375180_191375181delinsGA	GRCh38
NC_000003.11:g.191092969_191092970delinsGA , CM000665.1:g.191092969_191092970delinsGA	GRCh37
NC_000003.10:g.192575663_192575664delinsGA	NCBI36
NG_008994.1:g.51096_51097delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.567_568delinsGA MANE Select	ENSP00000376249.4:p.Glu189=
ENST00000392456.4:c.449-4979_449-4978delinsGA	ENSP00000376250.4:n.449-4979_449-4978delinsGA
ENST00000392455.7:c.449-4979_449-4978delinsGA	ENSP00000376249.3:n.449-4979_449-4978delinsGA
ENST00000392456.3:c.567_568delinsGA	ENSP00000376250.3:p.Glu189=
NM_174908.3:c.449-4979_449-4978delinsGA	NP_777568.1:n.449-4979_449-4978delinsGA
NM_178335.2:c.567_568delinsGA	NP_848018.1:p.Glu189=
XM_011512460.1:c.567_568delinsGA	XP_011510762.1:p.Glu189=
NM_178335.3:c.567_568delinsGA MANE Select	NP_848018.1:p.Glu189=
NM_174908.4:c.449-4979_449-4978delinsGA	NP_777568.1:n.449-4979_449-4978delinsGA