Canonical Allele Identifier: CA2669072417

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191375198-A-ACAACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375199_191375204dup , CM000665.2:g.191375199_191375204dup	GRCh38
NC_000003.11:g.191092988_191092993dup , CM000665.1:g.191092988_191092993dup	GRCh37
NC_000003.10:g.192575682_192575687dup	NCBI36
NG_008994.1:g.51115_51120dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.586_591dup MANE Select	ENSP00000376249.4:p.His197_Cys198insGlnHis
ENST00000392456.4:c.449-4960_449-4955dup	ENSP00000376250.4:n.449-4960_449-4955dup
ENST00000392455.7:c.449-4960_449-4955dup	ENSP00000376249.3:n.449-4960_449-4955dup
ENST00000392456.3:c.586_591dup	ENSP00000376250.3:p.His197_Cys198insGlnHis
NM_174908.3:c.449-4960_449-4955dup	NP_777568.1:n.449-4960_449-4955dup
NM_178335.2:c.586_591dup	NP_848018.1:p.His197_Cys198insGlnHis
XM_011512460.1:c.586_591dup	XP_011510762.1:p.His197_Cys198insGlnHis
NM_178335.3:c.586_591dup MANE Select	NP_848018.1:p.His197_Cys198insGlnHis
NM_174908.4:c.449-4960_449-4955dup	NP_777568.1:n.449-4960_449-4955dup