Canonical Allele Identifier: CA2740494417

Gene: CCDC50

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357198_191357203del , CM000665.2:g.191357198_191357203del	GRCh38
NC_000003.11:g.191074987_191074992del , CM000665.1:g.191074987_191074992del	GRCh37
NC_000003.10:g.192557681_192557686del	NCBI36
NG_008994.1:g.33114_33119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+48_112+53del MANE Select	ENSP00000376249.4:n.112+48_112+53del
ENST00000392456.4:c.112+48_112+53del	ENSP00000376250.4:n.112+48_112+53del
ENST00000392455.7:c.112+48_112+53del	ENSP00000376249.3:n.112+48_112+53del
ENST00000392456.3:c.112+48_112+53del	ENSP00000376250.3:n.112+48_112+53del
NM_174908.3:c.112+48_112+53del	NP_777568.1:n.112+48_112+53del
NM_178335.2:c.112+48_112+53del	NP_848018.1:n.112+48_112+53del
XM_011512460.1:c.112+48_112+53del	XP_011510762.1:n.112+48_112+53del
NM_178335.3:c.112+48_112+53del MANE Select	NP_848018.1:n.112+48_112+53del
NM_174908.4:c.112+48_112+53del	NP_777568.1:n.112+48_112+53del